Variant report

Variant	rs111246807
Chromosome Location	chr3:136470443-136470444
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	SMC3	chr3:136469791-136472601	Hela-S3	cervix:	n/a	chr3:136471189-136471203 chr3:136470573-136470583 chr3:136471247-136471261 chr3:136471196-136471203
2	CTCF	chr3:136469715-136472254	A549	lung:	n/a	chr3:136471189-136471202 chr3:136471247-136471260 chr3:136471240-136471261 chr3:136471189-136471202 chr3:136471187-136471205 chr3:136471511-136471524 chr3:136471246-136471262 chr3:136471188-136471204 chr3:136471245-136471263 chr3:136471182-136471203 chr3:136471682-136471695 chr3:136471190-136471200
3	TAL1	chr3:136469847-136472703	K562	blood:	n/a	chr3:136471188-136471203 chr3:136471188-136471203 chr3:136471188-136471203
4	MYC	chr3:136469913-136472218	K562	blood:	n/a	chr3:136470730-136470740 chr3:136470527-136470536 chr3:136470260-136470270 chr3:136471424-136471434
5	HDAC2	chr3:136470095-136470654	HepG2	liver:	n/a	chr3:136470277-136470291
6	USF1	chr3:136470407-136470631	HepG2	liver:	n/a	chr3:136470526-136470537
7	RAD21	chr3:136470158-136470646	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr3:136470163-136472420	HepG2	liver:	n/a	chr3:136472194-136472203
9	POLR2A	chr3:136470275-136470641	A549	lung:	n/a	n/a
10	USF2	chr3:136470366-136470701	H1-hESC	embryonic stem cell:	n/a	chr3:136470370-136470386 chr3:136470526-136470537
11	POLR2A	chr3:136470033-136472148	K562	blood:	n/a	n/a
12	POLR2A	chr3:136468906-136472752	PBDE	blood:	n/a	n/a
13	MYC	chr3:136470261-136470638	K562	blood:	n/a	chr3:136470527-136470536
14	REST	chr3:136470082-136470556	HepG2	liver:	n/a	chr3:136470468-136470481
15	NFIC	chr3:136470027-136470465	HepG2	liver:	n/a	n/a
16	TBP	chr3:136468937-136470513	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr3:136469910-136470492	K562	blood:	n/a	n/a
18	NFIC	chr3:136469975-136470455	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:136470008-136472743	K562	blood:	n/a	n/a
20	ZBTB7A	chr3:136470171-136470674	K562	blood:	n/a	chr3:136470490-136470501
21	POLR2A	chr3:136469954-136470581	GM12892	blood:	n/a	n/a
22	POLR2A	chr3:136470068-136472074	K562	blood:	n/a	n/a
23	POLR2A	chr3:136470364-136471922	HepG2	liver:	n/a	n/a
24	POLR2A	chr3:136470254-136471088	A549	lung:	n/a	n/a
25	MXI1	chr3:136470232-136472215	GM12878	blood:	n/a	chr3:136472194-136472203
26	POLR2A	chr3:136469765-136470698	K562	blood:	n/a	n/a
27	E2F6	chr3:136470161-136471779	K562	blood:	n/a	chr3:136470996-136471004 chr3:136471395-136471404 chr3:136471423-136471432 chr3:136471392-136471404 chr3:136470730-136470739 chr3:136471673-136471685 chr3:136471396-136471403 chr3:136471377-136471386 chr3:136471454-136471463 chr3:136471396-136471403 chr3:136471395-136471403 chr3:136471544-136471553 chr3:136471396-136471403 chr3:136470259-136470268 chr3:136470474-136470484 chr3:136470537-136470547 chr3:136471393-136471404
28	POLR2A	chr3:136469861-136473110	HepG2	liver:	n/a	n/a
29	POLR2A	chr3:136470377-136472213	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr3:136470056-136472457	NB4	blood:	n/a	n/a
31	TAF1	chr3:136470145-136470469	Hela-S3	cervix:	n/a	n/a
32	MAZ	chr3:136470122-136471742	HepG2	liver:	n/a	chr3:136470730-136470740 chr3:136470527-136470536 chr3:136470260-136470270 chr3:136471424-136471434
33	CHD1	chr3:136468963-136472242	GM12878	blood:	n/a	chr3:136470257-136470267
34	TBP	chr3:136470033-136473040	K562	blood:	n/a	n/a
35	POLR2A	chr3:136468959-136472839	GM12891	blood:	n/a	n/a
36	POLR2A	chr3:136470097-136472391	HCT-116	colon:	n/a	n/a
37	YY1	chr3:136470241-136472039	K562	blood:	n/a	chr3:136470259-136470268 chr3:136470937-136470954 chr3:136471574-136471590 chr3:136470939-136470949 chr3:136470758-136470769 chr3:136471423-136471432 chr3:136471575-136471585 chr3:136470536-136470547 chr3:136470939-136470961 chr3:136470536-136470545 chr3:136470439-136470450 chr3:136471052-136471061 chr3:136471575-136471585 chr3:136471546-136471560 chr3:136471418-136471432 chr3:136471337-136471348 chr3:136471189-136471197 chr3:136471573-136471590
38	POLR2A	chr3:136469681-136470524	U87	brain:	n/a	n/a
39	HA-E2F1	chr3:136470049-136472207	MCF-7	breast:	n/a	chr3:136471392-136471403 chr3:136471395-136471404 chr3:136471423-136471432 chr3:136471392-136471404 chr3:136470730-136470739 chr3:136471673-136471685 chr3:136471396-136471403 chr3:136471377-136471386 chr3:136471454-136471463 chr3:136471396-136471403 chr3:136471544-136471553 chr3:136471396-136471403 chr3:136470259-136470268 chr3:136470474-136470484 chr3:136470537-136470547
40	MAX	chr3:136470032-136472084	K562	blood:	n/a	chr3:136470730-136470740 chr3:136470527-136470536 chr3:136470260-136470270 chr3:136471424-136471434
41	POLR2A	chr3:136469846-136473025	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr3:136470032-136472652	GM19099	blood:	n/a	n/a
43	POLR2A	chr3:136470184-136472023	A549	lung:	n/a	n/a
44	MAX	chr3:136469780-136472321	Hela-S3	cervix:	n/a	chr3:136470730-136470740 chr3:136470527-136470536 chr3:136470260-136470270 chr3:136471424-136471434
45	ELF1	chr3:136470258-136472033	GM12878	blood:	n/a	chr3:136471315-136471327 chr3:136471152-136471164 chr3:136470536-136470545
46	RAD21	chr3:136469788-136470468	IMR90	lung:	n/a	n/a
47	YY1	chr3:136470310-136471901	NT2-D1	testis:	n/a	chr3:136470937-136470954 chr3:136471574-136471590 chr3:136470939-136470949 chr3:136470758-136470769 chr3:136471423-136471432 chr3:136471575-136471585 chr3:136470536-136470547 chr3:136470939-136470961 chr3:136470536-136470545 chr3:136470439-136470450 chr3:136471052-136471061 chr3:136471575-136471585 chr3:136471546-136471560 chr3:136471418-136471432 chr3:136471337-136471348 chr3:136471189-136471197 chr3:136471573-136471590
48	MYC	chr3:136469870-136471969	A549	lung:	n/a	chr3:136470730-136470740 chr3:136470527-136470536 chr3:136470260-136470270 chr3:136471424-136471434
49	POLR2A	chr3:136469618-136472614	IMR90	lung:	n/a	n/a
50	MYC	chr3:136470046-136472127	Hela-S3	cervix:	n/a	chr3:136470730-136470740 chr3:136470527-136470536 chr3:136470260-136470270 chr3:136471424-136471434

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:136470434-136470484	NHBE	bronchial:	n/a
2	chr3:136470434-136470484	HCM	heart:	n/a
3	chr3:136470434-136470484	Hepatocyte	liver:	n/a
4	chr3:136470434-136470484	RPTEC	kidney:	n/a
5	chr3:136470434-136470484	Caco-2	colon:	n/a
6	chr3:136470434-136470484	IMR90	lung:	fetal
7	chr3:136470434-136470484	SAEC	small airway:	n/a
8	chr3:136470434-136470484	AoSMC	blood vessel:	n/a
9	chr3:136470434-136470484	SK-N-MC	brain:	n/a
10	chr3:136470434-136470484	GM12891	blood:	n/a
11	chr3:136470434-136470484	NT2-D1	testis:	n/a
12	chr3:136470434-136470484	PFSK-1	brain:	n/a
13	chr3:136470434-136470484	ovcar-3	ovarian:	n/a
14	chr3:136470434-136470484	T-47D	breast:	n/a
15	chr3:136470434-136470484	HL-60	blood:	n/a
16	chr3:136470434-136470484	Jurkat	blood:	n/a
17	chr3:136470434-136470484	BE2_C	brain:	n/a
18	chr3:136470434-136470484	NB4	blood:	n/a
19	chr3:136470434-136470484	HUVEC	blood vessel:	n/a
20	chr3:136470434-136470484	SKMC	muscle:	n/a
21	chr3:136470434-136470484	BJ	skin:	n/a
22	chr3:136470434-136470484	CMK	blood:	n/a
23	chr3:136470434-136470484	HPAEpiC	pulmonary alveolar:	n/a
24	chr3:136470434-136470484	GM12892	blood:	n/a
25	chr3:136470434-136470484	HEEpiC	esophagus:	n/a
26	chr3:136470434-136470484	SK-N-SH	brain:	n/a
27	chr3:136470434-136470484	U87	brain:	n/a
28	chr3:136470434-136470484	LNCaP	prostate:	n/a
29	chr3:136470434-136470484	H1-hESC	embryonic stem cell:	embryo
30	chr3:136470434-136470484	HRPEpiC	eye:	n/a
31	chr3:136470434-136470484	HCT-116	colon:	n/a
32	chr3:136470434-136470484	HepG2	liver:	n/a
33	chr3:136470434-136470484	AG09319	gingival:	n/a
34	chr3:136470434-136470484	NH-A	brain:	n/a
35	chr3:136470434-136470484	GM06990	blood:	n/a
36	chr3:136470434-136470484	MCF10A-Er-Src	breast:	n/a
37	chr3:136470434-136470484	AG04450	lung:	fetal
38	chr3:136470434-136470484	AG04449	skin:	fetal
39	chr3:136470434-136470484	Hela-S3	cervix:	n/a
40	chr3:136470434-136470484	MCF-7	breast:	n/a
41	chr3:136470434-136470484	HRCEpiC	kidney:	n/a
42	chr3:136470434-136470484	HCPEpiC	choroid plexus:	n/a
43	chr3:136470434-136470484	PANC-1	pancreas:	n/a
44	chr3:136470434-136470484	HRE	kidney:	n/a
45	chr3:136470434-136470484	AG10803	skin:	n/a
46	chr3:136470434-136470484	HCF	heart:	n/a
47	chr3:136470434-136470484	NHDF-neo	bronchial:	n/a
48	chr3:136470434-136470484	K562	blood:	n/a
49	chr3:136470434-136470484	GM12878	blood:	n/a
50	chr3:136470434-136470484	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:136466613..136474326-chr3:136579481..136583133,10	K562	blood:
2	chr3:136470318..136472005-chr3:161088059..161090755,2	MCF-7	breast:
3	chr3:136470410..136471092-chr7:32996883..32997834,2	Hela-S3	cervix:
4	chr3:136453394..136456450-chr3:136469548..136472199,3	K562	blood:
5	chr3:136468701..136475672-chr3:136535815..136540749,9	K562	blood:
6	chr3:136470431..136471115-chr5:53606331..53606920,2	Hela-S3	cervix:
7	chr3:136350170..136353597-chr3:136468835..136472616,3	MCF-7	breast:
8	chr11:62609047..62610004-chr3:136469655..136471390,4	Hela-S3	cervix:
9	chr3:136460807..136463236-chr3:136469569..136471141,2	MCF-7	breast:
10	chr3:135968756..135970580-chr3:136469634..136471998,2	K562	blood:
11	chr3:136447967..136449476-chr3:136469163..136470945,2	MCF-7	breast:
12	chr3:136470105..136470853-chr3:195269618..195270475,2	Hela-S3	cervix:
13	chr3:101567901..101568689-chr3:136470284..136471127,2	Hela-S3	cervix:
14	chr3:135912902..135916874-chr3:136469598..136473232,8	MCF-7	breast:
15	chr2:101179491..101180092-chr3:136470165..136470710,2	Hela-S3	cervix:
16	chr3:136470133..136470947-chrX:41193764..41194501,2	Hela-S3	cervix:
17	chr3:135914989..135917015-chr3:136470237..136472481,3	K562	blood:
18	chr3:136469311..136474326-chr3:136579207..136583133,7	K562	blood:
19	chr3:135912817..135916962-chr3:136469681..136473212,8	K562	blood:
20	chr1:153747489..153748173-chr3:136470178..136470949,2	Hela-S3	cervix:
21	chr3:136334079..136336516-chr3:136469054..136471144,3	MCF-7	breast:
22	chr3:135967505..135970256-chr3:136469769..136472442,3	K562	blood:
23	chr3:135969104..135971090-chr3:136470031..136473091,3	MCF-7	breast:
24	chr3:136469358..136473351-chr3:136579831..136582888,9	MCF-7	breast:
25	chr3:136468701..136470951-chr3:136535903..136538830,3	K562	blood:
26	chr1:147806325..147807312-chr3:136470105..136471009,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000261758	TF binding region
ENSG00000261758	CpG island
ENSG00000168917	Chromatin interaction
ENSG00000251708	Chromatin interaction
ENSG00000215301	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000185305	Chromatin interaction
ENSG00000184203	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000158092	Chromatin interaction
ENSG00000174579	Chromatin interaction
ENSG00000114054	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000115539	Chromatin interaction
ENSG00000240695	Chromatin interaction
ENSG00000122642	Chromatin interaction
ENSG00000239213	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1006737	chr3:136466188-136530743	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3423516	chr3:136469287-136472135	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136468200-136473000	Active TSS	A549	lung
2	chr3:136468400-136472000	Active TSS	NHDF-Ad	bronchial
3	chr3:136468400-136472200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:136468400-136472200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:136468400-136472600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:136468600-136471400	Active TSS	Right Atrium	heart
7	chr3:136468600-136472200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr3:136468800-136472000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:136468800-136472000	Active TSS	HMEC	breast
10	chr3:136468800-136472200	Active TSS	GM12878-XiMat	blood
11	chr3:136469000-136470600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr3:136469000-136471800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:136469000-136471800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr3:136469000-136471800	Active TSS	Thymus	Thymus
15	chr3:136469000-136471800	Active TSS	HepG2	liver
16	chr3:136469000-136472000	Active TSS	Fetal Kidney	kidney
17	chr3:136469000-136472000	Active TSS	Hela-S3	cervix
18	chr3:136469000-136472200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:136469000-136472400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:136469000-136472400	Active TSS	Fetal Muscle Trunk	muscle
21	chr3:136469000-136472600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:136469000-136472600	Active TSS	Colonic Mucosa	Colon
23	chr3:136469200-136471800	Active TSS	Primary T cells fromperipheralblood	blood
24	chr3:136469200-136472000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:136469200-136472000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:136469200-136472000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:136469200-136472000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:136469200-136472000	Active TSS	Fetal Intestine Small	intestine
29	chr3:136469200-136472000	Active TSS	Placenta Amnion	Placenta Amnion
30	chr3:136469200-136472000	Active TSS	NHLF	lung
31	chr3:136469200-136472200	Active TSS	Brain Anterior Caudate	brain
32	chr3:136469200-136472200	Active TSS	Fetal Intestine Large	intestine
33	chr3:136469200-136472200	Active TSS	Stomach Smooth Muscle	stomach
34	chr3:136469200-136472400	Active TSS	Aorta	Aorta
35	chr3:136469200-136472400	Active TSS	Left Ventricle	heart
36	chr3:136469200-136472400	Active TSS	Ovary	ovary
37	chr3:136469200-136472400	Active TSS	Psoas Muscle	Psoas
38	chr3:136469200-136472400	Active TSS	Right Ventricle	heart
39	chr3:136469200-136473000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr3:136469200-136473400	Active TSS	K562	blood
41	chr3:136469400-136470600	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
42	chr3:136469400-136471800	Active TSS	Placenta	Placenta
43	chr3:136469400-136471800	Active TSS	Rectal Smooth Muscle	rectum
44	chr3:136469400-136471800	Active TSS	NH-A	brain
45	chr3:136469400-136472000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr3:136469400-136472000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:136469400-136472000	Active TSS	Fetal Brain Female	brain
48	chr3:136469400-136472000	Active TSS	Fetal Muscle Leg	muscle
49	chr3:136469400-136472000	Active TSS	Fetal Thymus	thymus
50	chr3:136469400-136472000	Active TSS	NHEK	skin

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