Variant report

Variant	rs371865773
Chromosome Location	chr6:56819224-56819225
allele	C/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	CCNT2	chr6:56818752-56820369	K562	blood:	n/a	n/a
2	MAX	chr6:56818922-56820994	K562	blood:	n/a	chr6:56819810-56819817 chr6:56819809-56819818 chr6:56819807-56819822 chr6:56819596-56819605 chr6:56820510-56820519 chr6:56819809-56819819
3	MYC	chr6:56818414-56821029	K562	blood:	n/a	chr6:56819810-56819817 chr6:56819809-56819818 chr6:56818787-56818795 chr6:56819807-56819822 chr6:56819596-56819605 chr6:56820510-56820519 chr6:56818675-56818684 chr6:56819809-56819819
4	POLR2A	chr6:56818401-56820972	GM18505	blood:	n/a	n/a
5	MAX	chr6:56819179-56820477	H1-hESC	embryonic stem cell:	n/a	chr6:56819810-56819817 chr6:56819809-56819818 chr6:56819807-56819822 chr6:56819596-56819605 chr6:56819809-56819819
6	POLR2A	chr6:56818599-56820925	IMR90	lung:	n/a	n/a
7	ZNF143	chr6:56818974-56819594	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:56818258-56821041	GM19099	blood:	n/a	n/a
9	TBP	chr6:56818844-56821002	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:56819026-56820948	K562	blood:	n/a	n/a
11	YY1	chr6:56819210-56821039	SK-N-SH	brain:	n/a	chr6:56819546-56819557 chr6:56819962-56819976 chr6:56819543-56819557 chr6:56819534-56819548 chr6:56819775-56819784 chr6:56819846-56819860 chr6:56819922-56819933 chr6:56819514-56819528 chr6:56819770-56819784
12	TCF7L2	chr6:56819147-56819573	PANC-1	pancreas:	n/a	n/a
13	MYC	chr6:56819069-56820240	MCF-7	breast:	n/a	chr6:56819810-56819817 chr6:56819809-56819818 chr6:56819807-56819822 chr6:56819596-56819605 chr6:56819809-56819819
14	POLR2A	chr6:56819096-56820950	HepG2	liver:	n/a	n/a
15	ZNF143	chr6:56819118-56819514	K562	blood:	n/a	n/a
16	POLR2A	chr6:56818566-56821126	H1-hESC	embryonic stem cell:	n/a	n/a
17	RCOR1	chr6:56819206-56819589	K562	blood:	n/a	n/a
18	CHD1	chr6:56818955-56819466	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:56817860-56821003	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:56819178-56820475	K562	blood:	n/a	n/a
21	POLR2A	chr6:56819213-56820368	A549	lung:	n/a	n/a
22	POLR2A	chr6:56819122-56820917	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr6:56818137-56819678	GM12878	blood:	n/a	n/a
24	NRF1	chr6:56818995-56820588	SK-N-SH	brain:	n/a	chr6:56819516-56819525
25	POLR2A	chr6:56818805-56820457	MCF-7	breast:	n/a	n/a
26	MAX	chr6:56819194-56819481	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:56819016-56819705	U87	brain:	n/a	n/a
28	YY1	chr6:56818872-56820395	H1-hESC	embryonic stem cell:	n/a	chr6:56819546-56819557 chr6:56819962-56819976 chr6:56819543-56819557 chr6:56819108-56819119 chr6:56819534-56819548 chr6:56819775-56819784 chr6:56819846-56819860 chr6:56819922-56819933 chr6:56819514-56819528 chr6:56819770-56819784
29	MAZ	chr6:56818322-56819228	GM12878	blood:	n/a	chr6:56818787-56818795 chr6:56818675-56818684
30	POLR2A	chr6:56819194-56819649	GM12891	blood:	n/a	n/a
31	MAX	chr6:56818182-56821026	NB4	blood:	n/a	chr6:56819810-56819817 chr6:56819809-56819818 chr6:56818787-56818795 chr6:56819807-56819822 chr6:56819596-56819605 chr6:56820510-56820519 chr6:56818675-56818684 chr6:56819809-56819819
32	HA-E2F1	chr6:56818534-56821134	MCF-7	breast:	n/a	chr6:56819846-56819856 chr6:56819865-56819877 chr6:56819009-56819018
33	RAD21	chr6:56818897-56819605	IMR90	lung:	n/a	n/a
34	TCF7L2	chr6:56818837-56819486	Hela-S3	cervix:	n/a	n/a
35	RUNX3	chr6:56818299-56819583	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:56818571-56821038	GM19193	blood:	n/a	n/a
37	RELA	chr6:56818308-56820949	GM15510	blood:	n/a	chr6:56820275-56820284 chr6:56820275-56820284
38	CHD1	chr6:56819139-56819433	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZNF263	chr6:56818346-56820896	HEK293-T-REx	kidney:	n/a	chr6:56818755-56818764
40	POLR2A	chr6:56818155-56821044	GM12891	blood:	n/a	n/a
41	MTA3	chr6:56818140-56819528	GM12878	blood:	n/a	n/a
42	MAX	chr6:56819153-56820441	HepG2	liver:	n/a	chr6:56819810-56819817 chr6:56819809-56819818 chr6:56819807-56819822 chr6:56819596-56819605 chr6:56819809-56819819
43	HCFC1	chr6:56819214-56820934	K562	blood:	n/a	n/a
44	POLR2A	chr6:56819009-56821035	NB4	blood:	n/a	n/a
45	MAFK	chr6:56819192-56819774	H1-hESC	embryonic stem cell:	n/a	chr6:56819597-56819606 chr6:56819596-56819606
46	MYC	chr6:56818853-56821009	NB4	blood:	n/a	chr6:56819810-56819817 chr6:56819809-56819818 chr6:56819807-56819822 chr6:56819596-56819605 chr6:56820510-56820519 chr6:56819809-56819819
47	EBF1	chr6:56819193-56819476	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:56818983-56819890	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:56818963-56820960	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr6:56818724-56821068	SK-N-SH	brain:	n/a	chr6:56819773-56819782 chr6:56819997-56820013 chr6:56819855-56819871 chr6:56819596-56819605 chr6:56819925-56819941 chr6:56819962-56819978 chr6:56819776-56819785 chr6:56820620-56820634 chr6:56820615-56820628

No.	Distal block	Cell Line	Cell type
1	chr6:56818167..56820292-chr6:57177596..57182762,4	MCF-7	breast:
2	chr6:56818015..56821855-chr6:57180367..57183028,4	K562	blood:
3	chr6:56819190..56819889-chr8:141520799..141521484,2	Hela-S3	cervix:
4	chr10:101380540..101381425-chr6:56819022..56819785,2	NB4	blood:
5	chr6:56817930..56821539-chr6:56909452..56912838,6	K562	blood:
6	chr6:56809927..56811973-chr6:56817461..56820564,4	MCF-7	breast:
7	chr6:56816669..56821714-chr6:56908406..56912975,10	K562	blood:
8	chr6:56817813..56820711-chr6:56965881..56967844,2	K562	blood:
9	chr6:56818718..56821144-chr6:56954189..56956169,2	MCF-7	breast:
10	chr6:56818586..56820160-chr6:56954804..56956394,2	K562	blood:
11	chr6:56817242..56820030-chr9:96215701..96218251,2	MCF-7	breast:
12	chr6:56817510..56820425-chr6:57182215..57184592,2	K562	blood:
13	chr6:56817882..56819972-chr6:57035811..57037517,2	K562	blood:
14	chr6:56818533..56822842-chr6:56954657..56959004,6	K562	blood:
15	chr6:56818562..56821573-chr6:56964600..56969072,4	K562	blood:
16	chr6:56714424..56718313-chr6:56818301..56821248,4	MCF-7	breast:

Variant related genes	Relation type
BEND6	TF binding region
ENSG00000151914	Chromatin interaction
ENSG00000226803	Chromatin interaction
ENSG00000146143	Chromatin interaction
ENSG00000168116	Chromatin interaction
ENSG00000112200	Chromatin interaction
ENSG00000104472	Chromatin interaction
ENSG00000200224	Chromatin interaction
ENSG00000260475	Chromatin interaction
ENSG00000112208	Chromatin interaction
ENSG00000188938	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1022714	chr6:56729767-56826642	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538229	chr6:56729767-56826642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv3514081	chr6:56818693-56821116	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	esv3514082	chr6:56818693-56821116	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56817000-56820600	Active TSS	NHLF	lung
2	chr6:56817800-56819400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:56817800-56821200	Active TSS	NHDF-Ad	bronchial
4	chr6:56818000-56820400	Active TSS	Muscle Satellite Cultured Cells	--
5	chr6:56818000-56820600	Active TSS	Colon Smooth Muscle	Colon
6	chr6:56818000-56821000	Active TSS	HSMM	muscle
7	chr6:56818000-56821200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:56818000-56821400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:56818200-56819400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr6:56818200-56819400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr6:56818200-56819400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:56818200-56819400	Flanking Active TSS	Placenta	Placenta
13	chr6:56818200-56819400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
14	chr6:56818200-56819400	Active TSS	Right Atrium	heart
15	chr6:56818200-56819400	Flanking Active TSS	HUVEC	blood vessel
16	chr6:56818200-56820200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:56818200-56820200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
18	chr6:56818200-56820400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:56818200-56820400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:56818200-56820800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:56818200-56820800	Active TSS	Aorta	Aorta
22	chr6:56818200-56821000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:56818200-56821000	Bivalent/Poised TSS	Fetal Kidney	kidney
24	chr6:56818200-56821000	Active TSS	Rectal Smooth Muscle	rectum
25	chr6:56818200-56821000	Active TSS	A549	lung
26	chr6:56818400-56819400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:56818400-56819400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr6:56818400-56819400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr6:56818400-56819400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr6:56818400-56819400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
31	chr6:56818400-56819400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
32	chr6:56818400-56819400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
33	chr6:56818400-56819400	Flanking Bivalent TSS/Enh	Liver	Liver
34	chr6:56818400-56819400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr6:56818400-56819400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr6:56818400-56819600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
37	chr6:56818400-56820400	Active TSS	HSMMtube	muscle
38	chr6:56818400-56820600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:56818400-56820600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:56818400-56820600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:56818400-56820600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:56818400-56820800	Active TSS	Ovary	ovary
43	chr6:56818400-56820800	Active TSS	Psoas Muscle	Psoas
44	chr6:56818400-56821000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:56818400-56821000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:56818400-56821000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:56818400-56821000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:56818400-56821000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:56818400-56821000	Active TSS	GM12878-XiMat	blood
50	chr6:56818400-56821000	Active TSS	Osteobl	bone

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