Variant report

Variant	rs28415608
Chromosome Location	chr7:6630545-6630546
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	POLR2A	chr7:6629317-6630667	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr7:6629195-6630858	IMR90	lung:	n/a	n/a
3	REST	chr7:6629080-6630623	H1-neurons	neurons:	n/a	chr7:6629680-6629690 chr7:6629850-6629863 chr7:6629537-6629550 chr7:6629534-6629547
4	MAZ	chr7:6629321-6630651	IMR90	lung:	n/a	n/a
5	RCOR1	chr7:6628932-6630633	IMR90	lung:	n/a	n/a
6	SMC3	chr7:6628384-6630980	SK-N-SH	brain:	n/a	chr7:6629569-6629583 chr7:6629723-6629733 chr7:6629772-6629782 chr7:6629573-6629583 chr7:6629689-6629699
7	SIN3AK20	chr7:6629258-6630584	PANC-1	pancreas:	n/a	n/a
8	CTCF	chr7:6628973-6630715	SK-N-SH	brain:	n/a	chr7:6629720-6629733 chr7:6629572-6629582 chr7:6629567-6629585 chr7:6629679-6629692 chr7:6629570-6629583 chr7:6629689-6629702 chr7:6629568-6629584 chr7:6629570-6629579 chr7:6629570-6629583
9	ESRRA	chr7:6629306-6630548	GM12878	blood:	n/a	chr7:6629482-6629495
10	CTCF	chr7:6630090-6630559	K562	blood:	n/a	n/a
11	MTA3	chr7:6629219-6630549	GM12878	blood:	n/a	n/a
12	CHD1	chr7:6629213-6630687	IMR90	lung:	n/a	chr7:6629561-6629571
13	CEBPB	chr7:6630406-6630680	HepG2	liver:	n/a	chr7:6630525-6630536
14	POLR2A	chr7:6628740-6630557	HepG2	liver:	n/a	n/a
15	ZNF384	chr7:6630333-6630623	GM12878	blood:	n/a	n/a
16	CTCF	chr7:6628959-6630575	A549	lung:	n/a	chr7:6629720-6629733 chr7:6629572-6629582 chr7:6629567-6629585 chr7:6629679-6629692 chr7:6629570-6629583 chr7:6629689-6629702 chr7:6629568-6629584 chr7:6629570-6629579 chr7:6629570-6629583
17	SIN3AK20	chr7:6629195-6630645	MCF-7	breast:	n/a	n/a
18	CEBPB	chr7:6630419-6630598	HepG2	liver:	n/a	chr7:6630525-6630536
19	CEBPB	chr7:6630333-6630674	IMR90	lung:	n/a	chr7:6630525-6630536
20	MXI1	chr7:6628319-6630830	SK-N-SH	brain:	n/a	n/a
21	CEBPB	chr7:6630410-6630659	K562	blood:	n/a	chr7:6630525-6630536

No.	Distal block	Cell Line	Cell type
1	chr7:6523102..6525727-chr7:6628447..6631086,2	MCF-7	breast:
2	chr7:6621445..6626175-chr7:6626576..6631235,7	MCF-7	breast:
3	chr7:6614342..6622557-chr7:6625132..6631922,18	K562	blood:
4	chr7:6615687..6618664-chr7:6627812..6632591,8	MCF-7	breast:
5	chr7:6627960..6631587-chr7:6636185..6643600,9	MCF-7	breast:
6	chr7:6629715..6632730-chr7:6637377..6639993,3	K562	blood:
7	chr7:6628303..6631132-chr7:6637511..6639950,2	K562	blood:
8	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:
9	chr7:6522590..6525464-chr7:6629667..6631342,2	K562	blood:
10	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
11	chr7:6628215..6631115-chr7:6675239..6679126,9	MCF-7	breast:
12	chr7:6626891..6631454-chr7:6676260..6679154,6	K562	blood:

Variant related genes	Relation type
C7orf26	TF binding region
ENSG00000232581	TF binding region
ENSG00000269781	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000136247	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000164631	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10232978	1.00[AMR][1000 genomes]
rs10243430	1.00[AMR][1000 genomes]
rs10252323	1.00[AMR][1000 genomes]
rs10254971	1.00[AMR][1000 genomes]
rs10260097	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261430	1.00[AMR][1000 genomes]
rs10280892	1.00[AMR][1000 genomes]
rs10281166	1.00[AMR][1000 genomes]
rs13437804	0.84[AFR][1000 genomes]
rs28446342	1.00[AMR][1000 genomes]
rs28460290	1.00[AMR][1000 genomes]
rs28662216	1.00[AMR][1000 genomes]
rs73344937	1.00[AMR][1000 genomes]
rs73344939	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
4	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
6	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv887433	chr7:6557135-6668027	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
20	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	esv1797143	chr7:6628177-6705439	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv606003	chr7:6628242-6713985	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
26	esv3381818	chr7:6628877-6630925	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6629000-6630600	Active TSS	Osteobl	bone
2	chr7:6629000-6630800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:6629000-6631000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:6629200-6630600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:6629200-6630600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:6629200-6630600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:6629200-6630600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:6629200-6630800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:6629200-6630800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:6629200-6630800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:6629200-6630800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:6629200-6630800	Active TSS	NHLF	lung
13	chr7:6629400-6630600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:6629400-6630600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:6629400-6630600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:6629400-6630600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:6629400-6630600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:6629400-6630600	Active TSS	Muscle Satellite Cultured Cells	--
19	chr7:6629400-6630600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:6629400-6630600	Active TSS	Brain Angular Gyrus	brain
21	chr7:6629400-6630600	Active TSS	Esophagus	oesophagus
22	chr7:6629400-6630600	Active TSS	Fetal Intestine Large	intestine
23	chr7:6629400-6630600	Active TSS	Left Ventricle	heart
24	chr7:6629400-6630600	Active TSS	Pancreas	Pancrea
25	chr7:6629400-6630600	Active TSS	Psoas Muscle	Psoas
26	chr7:6629400-6630600	Active TSS	HMEC	breast
27	chr7:6629400-6630600	Active TSS	K562	blood
28	chr7:6629400-6630800	Active TSS	Ovary	ovary
29	chr7:6629400-6630800	Active TSS	Right Atrium	heart
30	chr7:6629400-6630800	Active TSS	A549	lung
31	chr7:6629400-6630800	Active TSS	GM12878-XiMat	blood
32	chr7:6629400-6631000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:6629400-6631000	Active TSS	HSMM	muscle
34	chr7:6629600-6630600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:6629600-6630600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:6629600-6630600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:6629600-6630600	Active TSS	Gastric	stomach
38	chr7:6629600-6630600	Active TSS	Lung	lung
39	chr7:6629600-6630600	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr7:6629600-6630600	Active TSS	Small Intestine	intestine
41	chr7:6629600-6630600	Active TSS	HSMMtube	muscle
42	chr7:6629600-6630800	Active TSS	Aorta	Aorta
43	chr7:6629800-6630600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr7:6629800-6630600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:6629800-6630600	Active TSS	Fetal Lung	lung
46	chr7:6629800-6630600	Active TSS	NHDF-Ad	bronchial
47	chr7:6629800-6630800	Active TSS	Fetal Kidney	kidney
48	chr7:6630000-6630600	Active TSS	Stomach Mucosa	stomach
49	chr7:6630000-6630800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr7:6630000-6630800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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