Variant report

Variant	rs185611277
Chromosome Location	chr6:33377739-33377740
allele	C/T
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	RUNX3	chr6:33377614-33378701	GM12878	blood:	n/a	n/a
2	E2F6	chr6:33377655-33378509	A549	lung:	n/a	n/a
3	POLR2A	chr6:33377703-33378699	A549	lung:	n/a	n/a
4	ESRRA	chr6:33377416-33379769	GM12878	blood:	n/a	chr6:33378216-33378229 chr6:33378393-33378411 chr6:33379217-33379227 chr6:33379217-33379226 chr6:33379195-33379214 chr6:33377801-33377813
5	NFATC1	chr6:33377639-33378389	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:33377702-33379363	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr6:33377525-33379636	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr6:33377700-33378484	ECC-1	luminal epithelium:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
9	POLR2A	chr6:33377626-33378371	HepG2	liver:	n/a	n/a
10	CREB1	chr6:33377589-33378593	K562	blood:	n/a	chr6:33378124-33378137
11	POLR2A	chr6:33377660-33378386	GM12891	blood:	n/a	n/a
12	EP300	chr6:33377727-33378309	K562	blood:	n/a	chr6:33378279-33378295 chr6:33378237-33378253
13	POLR2A	chr6:33377198-33378902	HL-60	blood:	n/a	n/a
14	HNF4A	chr6:33377648-33378331	HepG2	liver:	n/a	chr6:33377799-33377814 chr6:33377798-33377816 chr6:33377800-33377813 chr6:33377801-33377813 chr6:33377799-33377814 chr6:33378000-33378008 chr6:33377801-33377813 chr6:33377707-33377729 chr6:33377799-33377814 chr6:33377801-33377813
15	ELF1	chr6:33377559-33378384	MCF-7	breast:	n/a	chr6:33378003-33378015
16	HNF4G	chr6:33377611-33378284	HepG2	liver:	n/a	chr6:33377799-33377814 chr6:33377798-33377816 chr6:33377800-33377813 chr6:33377801-33377813 chr6:33378000-33378008 chr6:33377801-33377813 chr6:33377707-33377729 chr6:33377799-33377814 chr6:33377801-33377813
17	SP1	chr6:33377573-33378941	HCT-116	colon:	n/a	chr6:33378405-33378414 chr6:33378456-33378466 chr6:33378406-33378415 chr6:33378098-33378119 chr6:33378348-33378360 chr6:33378323-33378333 chr6:33378405-33378415 chr6:33378431-33378440 chr6:33378006-33378015 chr6:33378457-33378466 chr6:33378456-33378466 chr6:33378349-33378358 chr6:33378004-33378016 chr6:33378052-33378066 chr6:33378255-33378269 chr6:33378322-33378334 chr6:33378404-33378416 chr6:33378180-33378192 chr6:33378349-33378359 chr6:33377739-33377753 chr6:33378430-33378442 chr6:33378456-33378465 chr6:33378371-33378381 chr6:33378427-33378441 chr6:33378180-33378192 chr6:33378345-33378359 chr6:33377883-33377893 chr6:33378004-33378015 chr6:33378404-33378416 chr6:33378350-33378359 chr6:33378323-33378333 chr6:33378432-33378441 chr6:33378348-33378360 chr6:33378182-33378191 chr6:33378051-33378062 chr6:33378430-33378442
18	TEAD4	chr6:33377690-33378461	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr6:33376663-33380029	HepG2	liver:	n/a	n/a
20	MAX	chr6:33377583-33378588	A549	lung:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
21	REST	chr6:33377527-33379367	H1-neurons	neurons:	n/a	chr6:33378320-33378333
22	ARID3A	chr6:33377459-33378281	HepG2	liver:	n/a	n/a
23	TBP	chr6:33377580-33378153	HepG2	liver:	n/a	n/a
24	TEAD4	chr6:33377131-33378425	K562	blood:	n/a	n/a
25	POLR2A	chr6:33377167-33378995	K562	blood:	n/a	n/a
26	POLR2A	chr6:33376768-33379235	PFSK-1	brain:	n/a	n/a
27	STAT5A	chr6:33377596-33378319	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:33377277-33378886	HL-60	blood:	n/a	n/a
29	TBP	chr6:33377710-33377910	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:33376964-33379018	K562	blood:	n/a	n/a
31	POLR2A	chr6:33377397-33379021	Raji	blood:	n/a	n/a
32	TBL1XR1	chr6:33377393-33378246	GM12878	blood:	n/a	n/a
33	SIN3AK20	chr6:33377722-33378326	H1-hESC	embryonic stem cell:	n/a	n/a
34	CBX3	chr6:33377136-33378708	K562	blood:	n/a	n/a
35	HDAC2	chr6:33377640-33378379	HepG2	liver:	n/a	chr6:33377800-33377808
36	POLR2A	chr6:33377729-33379203	H1-neurons	neurons:	n/a	n/a
37	TEAD4	chr6:33377527-33378377	K562	blood:	n/a	n/a
38	TCF12	chr6:33377604-33378833	A549	lung:	n/a	n/a
39	POLR2A	chr6:33377681-33379306	GM12878	blood:	n/a	n/a
40	ELK1	chr6:33377562-33377877	K562	blood:	n/a	n/a
41	CREB1	chr6:33377662-33378701	GM12878	blood:	n/a	chr6:33378124-33378137
42	RCOR1	chr6:33377726-33378594	Hela-S3	cervix:	n/a	n/a
43	MAX	chr6:33377721-33379073	K562	blood:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
44	POLR2A	chr6:33377659-33378364	H1-hESC	embryonic stem cell:	n/a	n/a
45	SP1	chr6:33377659-33378575	A549	lung:	n/a	chr6:33378405-33378414 chr6:33378456-33378466 chr6:33378406-33378415 chr6:33378098-33378119 chr6:33378348-33378360 chr6:33378323-33378333 chr6:33378405-33378415 chr6:33378431-33378440 chr6:33378006-33378015 chr6:33378457-33378466 chr6:33378456-33378466 chr6:33378349-33378358 chr6:33378004-33378016 chr6:33378052-33378066 chr6:33378255-33378269 chr6:33378322-33378334 chr6:33378404-33378416 chr6:33378180-33378192 chr6:33378349-33378359 chr6:33377739-33377753 chr6:33378430-33378442 chr6:33378456-33378465 chr6:33378371-33378381 chr6:33378427-33378441 chr6:33378180-33378192 chr6:33378345-33378359 chr6:33377883-33377893 chr6:33378004-33378015 chr6:33378404-33378416 chr6:33378350-33378359 chr6:33378323-33378333 chr6:33378432-33378441 chr6:33378348-33378360 chr6:33378182-33378191 chr6:33378051-33378062 chr6:33378430-33378442
46	PBX3	chr6:33377692-33378725	A549	lung:	n/a	chr6:33378108-33378117
47	HEY1	chr6:33377628-33378305	K562	blood:	n/a	chr6:33378203-33378218 chr6:33377744-33377759
48	ZBTB7A	chr6:33377678-33378369	HepG2	liver:	n/a	n/a
49	FOXA1	chr6:33377654-33378385	HepG2	liver:	n/a	n/a
50	MAX	chr6:33377705-33378494	A549	lung:	n/a	chr6:33378349-33378359 chr6:33378405-33378415

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33377739-33377789	HIPEpiC	eye:	n/a
2	chr6:33377739-33377789	MCF10A-Er-Src	breast:	n/a
3	chr6:33377739-33377789	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:33377739-33377789	RPTEC	kidney:	n/a
5	chr6:33377739-33377789	NB4	blood:	n/a
6	chr6:33377739-33377789	HEEpiC	esophagus:	n/a
7	chr6:33377739-33377789	PANC-1	pancreas:	n/a
8	chr6:33377739-33377789	T-47D	breast:	n/a
9	chr6:33377739-33377789	Jurkat	blood:	n/a
10	chr6:33377739-33377789	SK-N-SH_RA	brain:	n/a
11	chr6:33377739-33377789	PrEC	prostate:	n/a
12	chr6:33377739-33377789	HCPEpiC	choroid plexus:	n/a
13	chr6:33377739-33377789	SK-N-SH	brain:	n/a
14	chr6:33377739-33377789	Caco-2	colon:	n/a
15	chr6:33377739-33377789	HEK293	kidney:	embryo
16	chr6:33377739-33377789	GM12878	blood:	n/a
17	chr6:33377739-33377789	PFSK-1	brain:	n/a
18	chr6:33377739-33377789	SK-N-MC	brain:	n/a
19	chr6:33377739-33377789	H1-hESC	embryonic stem cell:	embryo
20	chr6:33377739-33377789	HCM	heart:	n/a
21	chr6:33377739-33377789	NT2-D1	testis:	n/a
22	chr6:33377739-33377789	HAEpiC	amniotic membrane:	n/a
23	chr6:33377739-33377789	NHBE	bronchial:	n/a
24	chr6:33377739-33377789	SKMC	muscle:	n/a
25	chr6:33377739-33377789	MCF-7	breast:	n/a
26	chr6:33377739-33377789	HepG2	liver:	n/a
27	chr6:33377739-33377789	K562	blood:	n/a
28	chr6:33377739-33377789	GM12891	blood:	n/a
29	chr6:33377739-33377789	BE2_C	brain:	n/a
30	chr6:33377739-33377789	GM12892	blood:	n/a
31	chr6:33377739-33377789	HRE	kidney:	n/a
32	chr6:33377739-33377789	A549	lung:	n/a
33	chr6:33377739-33377789	HCF	heart:	n/a
34	chr6:33377739-33377789	GM19239	blood:	n/a
35	chr6:33377739-33377789	AG09319	gingival:	n/a
36	chr6:33377739-33377789	BJ	skin:	n/a
37	chr6:33377739-33377789	Hela-S3	cervix:	n/a
38	chr6:33377739-33377789	ECC-1	luminal epithelium:	n/a
39	chr6:33377739-33377789	HRPEpiC	eye:	n/a
40	chr6:33377739-33377789	SAEC	small airway:	n/a
41	chr6:33377739-33377789	AoSMC	blood vessel:	n/a
42	chr6:33377739-33377789	AG10803	skin:	n/a
43	chr6:33377739-33377789	LNCaP	prostate:	n/a
44	chr6:33377739-33377789	AG04450	lung:	fetal
45	chr6:33377739-33377789	NHDF-neo	bronchial:	n/a
46	chr6:33377739-33377789	NH-A	brain:	n/a
47	chr6:33377739-33377789	AG09309	skin:	n/a
48	chr6:33377739-33377789	HUVEC	blood vessel:	n/a
49	chr6:33377739-33377789	ovcar-3	ovarian:	n/a
50	chr6:33377739-33377789	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr6:33366608..33368247-chr6:33376462..33378479,2	MCF-7	breast:
3	chr6:32938764..32940269-chr6:33377609..33379519,2	MCF-7	breast:
4	chr6:33377039..33379614-chr6:33421781..33424452,2	K562	blood:
5	chr6:33167104..33169096-chr6:33376083..33378504,2	K562	blood:
6	chr6:33377727..33378412-chr7:64838619..64839491,2	Hela-S3	cervix:
7	chr6:33377496..33379251-chr6:33661661..33664420,2	MCF-7	breast:
8	chr6:33237157..33241221-chr6:33375922..33380109,6	MCF-7	breast:
9	chr6:33357351..33361150-chr6:33373102..33380127,12	MCF-7	breast:
10	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
11	chr6:30710804..30712449-chr6:33376908..33379450,2	MCF-7	breast:
12	chr6:33255490..33258967-chr6:33375507..33378634,5	MCF-7	breast:
13	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
14	chr6:33166881..33169550-chr6:33376292..33379063,3	K562	blood:
15	chr6:33215707..33217514-chr6:33377026..33379165,2	K562	blood:
16	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
17	chr6:33280452..33282497-chr6:33377188..33378997,2	MCF-7	breast:
18	chr6:33263073..33268205-chr6:33376944..33380191,7	MCF-7	breast:
19	chr6:33261342..33263204-chr6:33376924..33379323,2	K562	blood:
20	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
21	chr6:33256889..33260224-chr6:33374160..33378303,4	K562	blood:
22	chr6:33356271..33363521-chr6:33371085..33380351,32	K562	blood:
23	chr6:33244680..33251060-chr6:33375427..33382644,12	MCF-7	breast:
24	chr6:33359285..33360429-chr6:33377538..33378244,3	K562	blood:
25	chr6:33242863..33248981-chr6:33374531..33379553,10	MCF-7	breast:

Variant related genes	Relation type
PHF1	TF binding region
PHF1	CpG island
ENSG00000225644	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000146757	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000269490	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000232940	Chromatin interaction
ENSG00000223501	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	esv3439586	chr6:33376999-33380347	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
4	esv3335292	chr6:33377349-33379972	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
5	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
6	esv3354637	chr6:33377724-33379522	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33361200-33377800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:33376600-33380000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:33377000-33377800	Flanking Active TSS	HepG2	liver
4	chr6:33377000-33378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:33377000-33378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:33377000-33378000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr6:33377000-33379600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:33377200-33377800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:33377200-33377800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:33377200-33377800	Enhancers	Spleen	Spleen
11	chr6:33377200-33377800	Flanking Active TSS	Hela-S3	cervix
12	chr6:33377200-33377800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr6:33377200-33378000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr6:33377200-33378000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr6:33377200-33378000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr6:33377200-33378000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr6:33377200-33378000	Enhancers	Fetal Heart	heart
18	chr6:33377200-33378000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr6:33377200-33378000	Flanking Active TSS	GM12878-XiMat	blood
20	chr6:33377200-33379200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:33377200-33379200	Active TSS	Colonic Mucosa	Colon
22	chr6:33377200-33379400	Active TSS	Rectal Smooth Muscle	rectum
23	chr6:33377200-33379600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr6:33377200-33379600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:33377200-33379800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:33377200-33379800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:33377200-33380000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:33377400-33377800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:33377400-33377800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:33377400-33377800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:33377400-33377800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr6:33377400-33377800	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr6:33377400-33377800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:33377400-33377800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr6:33377400-33377800	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr6:33377400-33378000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr6:33377400-33378000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr6:33377400-33378000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr6:33377400-33378000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:33377400-33378000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr6:33377400-33378000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr6:33377400-33378000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:33377400-33378000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:33377400-33378000	Flanking Active TSS	Liver	Liver
45	chr6:33377400-33378000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr6:33377400-33378000	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr6:33377400-33378000	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr6:33377400-33378000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:33377400-33378000	Transcr. at gene 5' and 3'	Dnd41	blood
50	chr6:33377400-33378000	Flanking Active TSS	HMEC	breast

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