Variant report

Variant	rs531819448
Chromosome Location	chr6:4777943-4777944
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	RELA	chr6:4777462-4778900	GM12878	blood:	n/a	n/a
2	RELA	chr6:4777389-4778895	GM18951	blood:	n/a	n/a
3	TCF12	chr6:4777856-4778064	H1-hESC	embryonic stem cell:	n/a	n/a
4	GATA3	chr6:4777768-4777954	SH-SY5Y	brain:	n/a	n/a
5	POLR2A	chr6:4777394-4778648	GM12891	blood:	n/a	n/a
6	CREB1	chr6:4777096-4777966	GM12878	blood:	n/a	n/a
7	CHD2	chr6:4777462-4778287	GM12878	blood:	n/a	n/a
8	RAD21	chr6:4777359-4777970	IMR90	lung:	n/a	n/a
9	POLR2A	chr6:4777261-4778617	GM12891	blood:	n/a	n/a
10	POLR2A	chr6:4777385-4778548	GM12878	blood:	n/a	n/a
11	SIN3A	chr6:4777473-4778158	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr6:4777367-4778050	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:4777772-4778162	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr6:4777368-4777965	K562	blood:	n/a	n/a
15	TCF12	chr6:4777813-4778158	H1-hESC	embryonic stem cell:	n/a	n/a
16	BHLHE40	chr6:4777336-4778808	GM12878	blood:	n/a	n/a
17	KAP1	chr6:4777817-4779068	K562	blood:	n/a	n/a
18	KAP1	chr6:4777767-4778872	HEK293	kidney:	n/a	n/a
19	TBP	chr6:4777392-4779043	GM12878	blood:	n/a	n/a
20	CEBPB	chr6:4777403-4778870	GM12878	blood:	n/a	chr6:4778531-4778542 chr6:4778533-4778544
21	BCLAF1	chr6:4777389-4778122	GM12878	blood:	n/a	n/a
22	RELA	chr6:4777413-4778869	GM19193	blood:	n/a	n/a
23	POLR2A	chr6:4777819-4778133	GM12891	blood:	n/a	n/a
24	POLR2A	chr6:4777148-4778610	GM12892	blood:	n/a	n/a
25	ZNF274	chr6:4777878-4778027	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr6:4777303-4777946	NB4	blood:	n/a	chr6:4777552-4777562
27	ELK1	chr6:4777936-4778020	K562	blood:	n/a	n/a
28	NFIC	chr6:4777359-4779165	GM12878	blood:	n/a	n/a
29	MXI1	chr6:4775628-4778903	SK-N-SH	brain:	n/a	chr6:4776030-4776039
30	POLR2A	chr6:4775177-4778562	GM18505	blood:	n/a	n/a
31	RUNX3	chr6:4777284-4778919	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:4776093-4778983	GM12878	blood:	n/a	n/a
33	CREB1	chr6:4777058-4778152	GM12878	blood:	n/a	n/a
34	MXI1	chr6:4776002-4778009	IMR90	lung:	n/a	chr6:4776030-4776039
35	MAZ	chr6:4774846-4778791	IMR90	lung:	n/a	chr6:4775819-4775828 chr6:4776302-4776311 chr6:4777256-4777266
36	RUNX3	chr6:4777891-4778606	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:4776346-4778055	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr6:4777867-4778049	H1-hESC	embryonic stem cell:	n/a	n/a
39	WRNIP1	chr6:4777483-4778203	GM12878	blood:	n/a	n/a
40	SMC3	chr6:4777461-4778244	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:4775838-4778573	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:4775417..4779410-chr6:4834974..4837006,3	MCF-7	breast:
2	chr6:4773447..4776687-chr6:4777915..4782551,4	MCF-7	breast:
3	chr6:4776139..4778956-chr6:5002447..5004557,2	K562	blood:
4	chr6:4488845..4492110-chr6:4777740..4781440,3	MCF-7	breast:
5	chr6:4775727..4780301-chr6:4925378..4930668,5	K562	blood:
6	chr6:4777710..4780092-chr6:4801744..4804702,2	K562	blood:
7	chr6:4776830..4778493-chr6:4928400..4930186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236336	TF binding region
ENSG00000260239	Chromatin interaction
ENSG00000153046	Chromatin interaction
ENSG00000236336	Chromatin interaction
ENSG00000124787	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3429586	chr6:4719363-4792438	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv3358796	chr6:4775353-4778326	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3405553	chr6:4775578-4778126	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3438069	chr6:4775703-4778001	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3445880	chr6:4775978-4778526	Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4773200-4778200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:4774200-4778000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:4774800-4778000	Active TSS	Stomach Smooth Muscle	stomach
4	chr6:4775000-4778000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:4775000-4778000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:4775000-4778000	Active TSS	Ovary	ovary
7	chr6:4775000-4778400	Active TSS	Brain Cingulate Gyrus	brain
8	chr6:4775000-4778400	Active TSS	A549	lung
9	chr6:4775200-4778000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:4775200-4778000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr6:4775200-4778000	Active TSS	Psoas Muscle	Psoas
12	chr6:4775200-4778400	Active TSS	Aorta	Aorta
13	chr6:4775400-4778000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr6:4775400-4778000	Active TSS	Small Intestine	intestine
15	chr6:4775600-4778000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:4775600-4778000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:4775600-4778200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:4775600-4778200	Active TSS	Left Ventricle	heart
19	chr6:4775600-4778400	Active TSS	Right Ventricle	heart
20	chr6:4775600-4778600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:4775800-4778000	Active TSS	Fetal Thymus	thymus
22	chr6:4775800-4778200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:4775800-4778200	Active TSS	Colonic Mucosa	Colon
24	chr6:4775800-4778200	Active TSS	Duodenum Mucosa	Duodenum
25	chr6:4775800-4778200	Active TSS	Fetal Muscle Trunk	muscle
26	chr6:4775800-4778400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:4775800-4778400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr6:4775800-4778400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:4775800-4778400	Active TSS	NH-A	brain
30	chr6:4775800-4778800	Active TSS	GM12878-XiMat	blood
31	chr6:4775800-4778800	Active TSS	NHLF	lung
32	chr6:4776000-4778000	Active TSS	Dnd41	blood
33	chr6:4776200-4778400	Active TSS	Right Atrium	heart
34	chr6:4776400-4778000	Active TSS	Hela-S3	cervix
35	chr6:4776400-4778200	Active TSS	Brain Germinal Matrix	brain
36	chr6:4776400-4778400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:4776800-4778000	Active TSS	K562	blood
38	chr6:4777200-4778000	Active TSS	Fetal Kidney	kidney
39	chr6:4777200-4778400	Active TSS	Placenta	Placenta
40	chr6:4777400-4778000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:4777400-4778200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr6:4777400-4778200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr6:4777400-4778200	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr6:4777400-4778200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr6:4777400-4778200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr6:4777400-4778400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr6:4777400-4778400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr6:4777400-4778400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:4777400-4778400	Flanking Active TSS	Liver	Liver
50	chr6:4777400-4778400	Flanking Active TSS	Fetal Brain Male	brain

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