Variant report

Variant	rs571899112
Chromosome Location	chr6:34203239-34203240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:34202931-34204843	K562	blood:	n/a	n/a
2	TAF1	chr6:34202486-34203290	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:34203117-34205616	HUVEC	blood vessel:	n/a	n/a
4	MAZ	chr6:34203019-34207012	IMR90	lung:	n/a	chr6:34204880-34204890 chr6:34203551-34203560 chr6:34205860-34205870 chr6:34203490-34203500 chr6:34203292-34203301 chr6:34204259-34204269 chr6:34203144-34203153 chr6:34204281-34204291 chr6:34203350-34203360 chr6:34203214-34203224 chr6:34204380-34204390 chr6:34203274-34203284 chr6:34203291-34203302 chr6:34205964-34205973
5	MAX	chr6:34203203-34206196	Hela-S3	cervix:	n/a	chr6:34204880-34204890 chr6:34203551-34203560 chr6:34205860-34205870 chr6:34203490-34203500 chr6:34203292-34203301 chr6:34204259-34204269 chr6:34204281-34204291 chr6:34203350-34203360 chr6:34203214-34203224 chr6:34204380-34204390 chr6:34203274-34203284 chr6:34203291-34203302 chr6:34205964-34205973
6	TEAD4	chr6:34203108-34204787	ECC-1	luminal epithelium:	n/a	chr6:34203389-34203398
7	EGR1	chr6:34203217-34203681	ECC-1	luminal epithelium:	n/a	chr6:34203274-34203284 chr6:34203330-34203343 chr6:34203430-34203443 chr6:34203272-34203282 chr6:34203490-34203503 chr6:34203400-34203424 chr6:34203274-34203287 chr6:34203268-34203281
8	POLR2A	chr6:34202560-34206869	GM12878	blood:	n/a	n/a
9	ETS1	chr6:34203103-34203810	K562	blood:	n/a	chr6:34203372-34203381 chr6:34203270-34203281 chr6:34203372-34203381 chr6:34203369-34203382 chr6:34203273-34203284 chr6:34203351-34203362
10	JUND	chr6:34203138-34204854	K562	blood:	n/a	chr6:34203548-34203559 chr6:34203356-34203365 chr6:34203551-34203562 chr6:34204284-34204293 chr6:34203935-34203945 chr6:34203550-34203561 chr6:34204283-34204292 chr6:34204175-34204187 chr6:34204101-34204110 chr6:34203935-34203945 chr6:34204287-34204296 chr6:34203552-34203561
11	CREB1	chr6:34202562-34204236	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:34202499-34204631	K562	blood:	n/a	n/a
13	SP1	chr6:34202904-34205143	HCT-116	colon:	n/a	chr6:34203428-34203438 chr6:34203331-34203345 chr6:34202982-34202992 chr6:34203491-34203505 chr6:34203272-34203286 chr6:34203429-34203438 chr6:34204587-34204596 chr6:34204829-34204843 chr6:34203271-34203283 chr6:34202982-34202991 chr6:34203017-34203031 chr6:34203428-34203437 chr6:34204587-34204597 chr6:34203271-34203282 chr6:34204586-34204598 chr6:34202982-34202996 chr6:34204587-34204596 chr6:34204586-34204598 chr6:34203342-34203353 chr6:34203272-34203281 chr6:34204858-34204867 chr6:34204587-34204597 chr6:34202981-34202993 chr6:34203018-34203027 chr6:34203272-34203282 chr6:34203017-34203026 chr6:34203149-34203158 chr6:34203494-34203506 chr6:34203349-34203361 chr6:34203024-34203038 chr6:34204588-34204597 chr6:34203271-34203283 chr6:34202981-34202993 chr6:34203017-34203027 chr6:34204586-34204597 chr6:34203060-34203069 chr6:34203361-34203375 chr6:34203016-34203028 chr6:34203016-34203028 chr6:34203427-34203439 chr6:34204287-34204299 chr6:34203149-34203158 chr6:34203148-34203157 chr6:34203273-34203282 chr6:34204587-34204601 chr6:34202982-34202992 chr6:34203362-34203371 chr6:34202983-34202992 chr6:34203004-34203011
14	MAX	chr6:34202491-34204661	H1-hESC	embryonic stem cell:	n/a	chr6:34203551-34203560 chr6:34203490-34203500 chr6:34203292-34203301 chr6:34204259-34204269 chr6:34203144-34203153 chr6:34204281-34204291 chr6:34203350-34203360 chr6:34203214-34203224 chr6:34204380-34204390 chr6:34203274-34203284 chr6:34203291-34203302
15	POLR2A	chr6:34203206-34205207	HUVEC	blood vessel:	n/a	n/a
16	EP300	chr6:34203064-34204099	ECC-1	luminal epithelium:	n/a	chr6:34203616-34203632 chr6:34203161-34203177
17	TEAD4	chr6:34202801-34203720	H1-hESC	embryonic stem cell:	n/a	chr6:34203389-34203398
18	GTF2F1	chr6:34202749-34203882	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr6:34202991-34206807	K562	blood:	n/a	n/a
20	HA-E2F1	chr6:34203129-34203877	Hela-S3	cervix:	n/a	chr6:34203351-34203360 chr6:34203681-34203690 chr6:34203273-34203282 chr6:34203265-34203275 chr6:34203429-34203438 chr6:34203256-34203268
21	POLR2A	chr6:34203014-34204975	K562	blood:	n/a	n/a
22	HCFC1	chr6:34203038-34205178	Hela-S3	cervix:	n/a	n/a
23	MAX	chr6:34202518-34205217	HCT-116	colon:	n/a	chr6:34204880-34204890 chr6:34203551-34203560 chr6:34203490-34203500 chr6:34203292-34203301 chr6:34204259-34204269 chr6:34203144-34203153 chr6:34204281-34204291 chr6:34203350-34203360 chr6:34203214-34203224 chr6:34204380-34204390 chr6:34203274-34203284 chr6:34203291-34203302
24	MYC	chr6:34203123-34204975	K562	blood:	n/a	chr6:34204880-34204890 chr6:34203551-34203560 chr6:34203490-34203500 chr6:34203292-34203301 chr6:34204259-34204269 chr6:34203144-34203153 chr6:34204281-34204291 chr6:34203350-34203360 chr6:34203214-34203224 chr6:34204380-34204390 chr6:34203274-34203284 chr6:34203291-34203302
25	POLR2A	chr6:34202799-34205159	HCT-116	colon:	n/a	n/a
26	ZNF143	chr6:34202798-34203985	H1-hESC	embryonic stem cell:	n/a	chr6:34203629-34203639 chr6:34203020-34203039 chr6:34203470-34203480 chr6:34203401-34203419 chr6:34203350-34203360 chr6:34203774-34203784 chr6:34203346-34203356
27	MAX	chr6:34202995-34205234	A549	lung:	n/a	chr6:34204880-34204890 chr6:34203551-34203560 chr6:34203490-34203500 chr6:34203292-34203301 chr6:34204259-34204269 chr6:34203144-34203153 chr6:34204281-34204291 chr6:34203350-34203360 chr6:34203214-34203224 chr6:34204380-34204390 chr6:34203274-34203284 chr6:34203291-34203302
28	MAZ	chr6:34203158-34205113	GM12878	blood:	n/a	chr6:34204880-34204890 chr6:34203551-34203560 chr6:34203490-34203500 chr6:34203292-34203301 chr6:34204259-34204269 chr6:34204281-34204291 chr6:34203350-34203360 chr6:34203214-34203224 chr6:34204380-34204390 chr6:34203274-34203284 chr6:34203291-34203302
29	CEBPD	chr6:34203221-34204925	K562	blood:	n/a	n/a
30	ATF2	chr6:34203212-34204748	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr6:34203082-34203810	A549	lung:	n/a	chr6:34203351-34203360 chr6:34203681-34203690 chr6:34203273-34203282 chr6:34203265-34203275 chr6:34203429-34203438 chr6:34203255-34203266 chr6:34203256-34203268
32	REST	chr6:34203171-34203833	K562	blood:	n/a	chr6:34203496-34203509 chr6:34203516-34203529
33	POLR2A	chr6:34203022-34206766	GM19193	blood:	n/a	n/a
34	BACH1	chr6:34202422-34204707	H1-hESC	embryonic stem cell:	n/a	chr6:34203549-34203563
35	POLR2A	chr6:34203232-34206800	HL-60	blood:	n/a	n/a
36	E2F6	chr6:34203097-34203772	K562	blood:	n/a	chr6:34203351-34203360 chr6:34203681-34203690 chr6:34203273-34203282 chr6:34203265-34203275 chr6:34203429-34203438 chr6:34203255-34203266 chr6:34203256-34203268
37	CCNT2	chr6:34202690-34206370	K562	blood:	n/a	chr6:34202983-34202992 chr6:34204588-34204597 chr6:34203018-34203027 chr6:34203362-34203371 chr6:34205365-34205374 chr6:34205687-34205696 chr6:34203060-34203069 chr6:34204858-34204867 chr6:34205495-34205504 chr6:34203273-34203282
38	POLR2A	chr6:34203051-34203338	GM12878	blood:	n/a	n/a
39	HDAC2	chr6:34202883-34203289	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr6:34202619-34203927	H1-hESC	embryonic stem cell:	n/a	chr6:34203242-34203255 chr6:34203047-34203060 chr6:34203046-34203058 chr6:34203167-34203179
41	HMGN3	chr6:34202650-34203918	K562	blood:	n/a	n/a
42	POLR2A	chr6:34203196-34206415	HUVEC	blood vessel:	n/a	n/a
43	E2F6	chr6:34203099-34204467	A549	lung:	n/a	chr6:34203351-34203360 chr6:34203681-34203690 chr6:34203273-34203282 chr6:34203265-34203275 chr6:34203429-34203438 chr6:34203255-34203266 chr6:34203256-34203268 chr6:34203983-34203992
44	MAX	chr6:34203099-34203820	K562	blood:	n/a	chr6:34203551-34203560 chr6:34203490-34203500 chr6:34203292-34203301 chr6:34203144-34203153 chr6:34203350-34203360 chr6:34203214-34203224 chr6:34203274-34203284 chr6:34203291-34203302
45	ZBTB7A	chr6:34202997-34203820	ECC-1	luminal epithelium:	n/a	chr6:34203480-34203489
46	POLR2A	chr6:34203005-34205232	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr6:34203079-34205162	GM12878	blood:	n/a	n/a
48	RAD21	chr6:34203017-34203282	H1-hESC	embryonic stem cell:	n/a	chr6:34203242-34203255 chr6:34203047-34203060 chr6:34203046-34203058 chr6:34203167-34203179
49	ELF1	chr6:34202839-34203876	K562	blood:	n/a	chr6:34203440-34203452 chr6:34202936-34202948 chr6:34203046-34203058 chr6:34203432-34203441
50	TBP	chr6:34202985-34205119	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34202426..34206348-chr6:34246132..34251181,8	K562	blood:
2	chr6:34202622..34206817-chr6:34391790..34393979,3	MCF-7	breast:
3	chr6:34129957..34135547-chr6:34199905..34204260,7	K562	blood:
4	chr6:34202422..34206409-chr6:34359682..34362061,4	MCF-7	breast:
5	chr6:34202333..34204420-chr6:34346794..34349148,2	K562	blood:
6	chr3:52017009..52017769-chr6:34203221..34204195,2	Hela-S3	cervix:
7	chr6:34202035..34203669-chr6:34568608..34571560,2	K562	blood:
8	chr6:27114807..27116319-chr6:34202953..34205471,2	K562	blood:
9	chr6:34201303..34203546-chr6:34292849..34294793,2	K562	blood:
10	chr6:34201904..34204640-chr6:34398634..34402211,3	K562	blood:
11	chr6:34128401..34131565-chr6:34200837..34203571,3	K562	blood:
12	chr6:34203144..34206658-chr6:34358641..34361602,5	MCF-7	breast:
13	chr6:33383299..33386120-chr6:34202398..34204899,2	K562	blood:
14	chr6:34199984..34203528-chr6:34381840..34383462,3	K562	blood:
15	chr6:34201904..34204640-chr6:34398022..34401494,3	K562	blood:
16	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
17	chr6:32939896..32942243-chr6:34202585..34204574,3	K562	blood:
18	chr6:34200572..34203532-chr6:34391693..34395651,4	K562	blood:
19	chr6:34202852..34208935-chr6:34358420..34361531,11	K562	blood:
20	chr6:34200640..34204018-chr6:34638884..34642541,3	K562	blood:
21	chr6:34201689..34203314-chr6:34391693..34393929,2	K562	blood:
22	chr6:34202035..34205684-chr6:35227191..35229008,3	K562	blood:

Variant related genes	Relation type
HMGA1	TF binding region
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000225339	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000196821	Chromatin interaction
ENSG00000243989	Chromatin interaction
ENSG00000112514	Chromatin interaction
ENSG00000114779	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv1816380	chr6:34110880-34206718	Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv885782	chr6:34187206-34209516	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv885783	chr6:34187206-34209844	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv823666	chr6:34201401-34207549	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	esv3444763	chr6:34201999-34204747	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	esv3486811	chr6:34202024-34204622	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	esv3486812	chr6:34202024-34204622	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	esv10483	chr6:34202138-34206094	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	esv3433952	chr6:34203174-34207622	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34192400-34203400	Weak transcription	Pancreas	Pancrea
2	chr6:34192400-34203600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:34192600-34203600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:34192600-34204400	Weak transcription	HSMMtube	muscle
5	chr6:34192800-34203800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:34194400-34203400	Weak transcription	Stomach Mucosa	stomach
7	chr6:34194800-34203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:34195800-34203400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:34195800-34203400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:34195800-34203400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:34195800-34203400	Weak transcription	A549	lung
12	chr6:34195800-34203600	Weak transcription	Spleen	Spleen
13	chr6:34197200-34203400	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:34197400-34203400	Weak transcription	K562	blood
15	chr6:34197400-34203600	Weak transcription	NHLF	lung
16	chr6:34198000-34203400	Weak transcription	GM12878-XiMat	blood
17	chr6:34198200-34203400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:34198800-34203400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:34198800-34203400	Weak transcription	Hela-S3	cervix
20	chr6:34199000-34203400	Weak transcription	Esophagus	oesophagus
21	chr6:34199000-34203400	Weak transcription	HMEC	breast
22	chr6:34199000-34203400	Weak transcription	NH-A	brain
23	chr6:34199000-34203800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:34199200-34203400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:34199200-34203400	Weak transcription	NHEK	skin
26	chr6:34199600-34203400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:34199600-34203600	Weak transcription	Brain Anterior Caudate	brain
28	chr6:34201000-34203400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:34201200-34203800	Weak transcription	NHDF-Ad	bronchial
30	chr6:34201200-34203800	Weak transcription	Osteobl	bone
31	chr6:34201200-34204200	Weak transcription	HSMM	muscle
32	chr6:34201600-34203400	Weak transcription	Primary T cells from cord blood	blood
33	chr6:34201800-34203800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:34202000-34203800	Weak transcription	Brain Substantia Nigra	brain
35	chr6:34202400-34203400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr6:34202400-34203800	Enhancers	Primary hematopoietic stem cells	blood
37	chr6:34202400-34207000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:34202400-34207400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr6:34202400-34207400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:34202600-34203400	Enhancers	Primary B cells from cord blood	blood
41	chr6:34202600-34203400	Enhancers	Colonic Mucosa	Colon
42	chr6:34202600-34203400	Enhancers	Fetal Thymus	thymus
43	chr6:34202600-34203400	Strong transcription	Right Atrium	heart
44	chr6:34202600-34203400	Enhancers	Right Ventricle	heart
45	chr6:34202600-34203600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:34202600-34203600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:34202600-34203600	Enhancers	Lung	lung
48	chr6:34202600-34206000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr6:34202600-34206000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:34202600-34206200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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