Variant report

Variant	rs59537848
Chromosome Location	chr7:6120585-6120586
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	MXI1	chr7:6120369-6121704	IMR90	lung:	n/a	n/a
2	SIN3AK20	chr7:6120408-6121151	PANC-1	pancreas:	n/a	n/a
3	PML	chr7:6120360-6121649	GM12878	blood:	n/a	n/a
4	RCOR1	chr7:6120437-6121477	K562	blood:	n/a	n/a
5	POLR2A	chr7:6120496-6121544	K562	blood:	n/a	n/a
6	ELF1	chr7:6120560-6121679	HCT-116	colon:	n/a	chr7:6121027-6121039 chr7:6121194-6121206 chr7:6121129-6121138 chr7:6121128-6121139 chr7:6121128-6121139
7	MAX	chr7:6120478-6121687	A549	lung:	n/a	n/a
8	MXI1	chr7:6120502-6121489	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:6120542-6121554	GM12892	blood:	n/a	n/a
10	HEY1	chr7:6120573-6121486	K562	blood:	n/a	chr7:6121027-6121042
11	BCLAF1	chr7:6120538-6121528	GM12878	blood:	n/a	chr7:6121008-6121021 chr7:6121030-6121043 chr7:6121191-6121200 chr7:6121034-6121047
12	ARID3A	chr7:6120514-6121572	HepG2	liver:	n/a	n/a
13	HA-E2F1	chr7:6120023-6121512	MCF-7	breast:	n/a	chr7:6121085-6121094 chr7:6121034-6121043
14	IRF1	chr7:6120475-6121530	K562	blood:	n/a	chr7:6121189-6121203 chr7:6121085-6121094 chr7:6121207-6121221
15	POLR2A	chr7:6120512-6121545	H1-neurons	neurons:	n/a	n/a
16	NRF1	chr7:6120391-6120713	HepG2	liver:	n/a	n/a
17	JUND	chr7:6120112-6121554	K562	blood:	n/a	chr7:6121008-6121017
18	POLR2A	chr7:6120534-6121567	H1-neurons	neurons:	n/a	n/a
19	REST	chr7:6120549-6121655	HL-60	blood:	n/a	n/a
20	POLR2A	chr7:6120455-6121576	HepG2	liver:	n/a	n/a
21	GATA3	chr7:6120404-6120935	SH-SY5Y	brain:	n/a	n/a
22	CUX1	chr7:6120267-6121098	K562	blood:	n/a	n/a
23	MAX	chr7:6120468-6121600	HepG2	liver:	n/a	n/a
24	EP300	chr7:6120454-6121590	K562	blood:	n/a	chr7:6121131-6121138 chr7:6121009-6121018
25	STAT5A	chr7:6120296-6121567	GM12878	blood:	n/a	chr7:6121243-6121255 chr7:6120930-6120942
26	CREB1	chr7:6120510-6121644	HepG2	liver:	n/a	n/a
27	TAF1	chr7:6120578-6121484	GM12891	blood:	n/a	n/a
28	POLR2A	chr7:6120245-6121703	MCF10A-Er-Src	breast:	n/a	n/a
29	SIN3AK20	chr7:6120323-6121602	MCF-7	breast:	n/a	n/a
30	IRF1	chr7:6120371-6121624	K562	blood:	n/a	chr7:6121189-6121203 chr7:6121085-6121094 chr7:6121207-6121221
31	POLR2A	chr7:6120558-6121527	K562	blood:	n/a	n/a
32	POLR2A	chr7:6120550-6121568	K562	blood:	n/a	n/a
33	POLR2A	chr7:6120552-6121562	K562	blood:	n/a	n/a
34	ARID3A	chr7:6120509-6120903	K562	blood:	n/a	n/a
35	TCF12	chr7:6120468-6121537	A549	lung:	n/a	chr7:6121243-6121253
36	NRF1	chr7:6120346-6121625	SK-N-SH	brain:	n/a	chr7:6121279-6121290 chr7:6121009-6121018 chr7:6121237-6121246
37	POLR2A	chr7:6120301-6121613	Hela-S3	cervix:	n/a	n/a
38	MXI1	chr7:6120421-6121528	GM12878	blood:	n/a	n/a
39	SMC3	chr7:6120483-6120911	HepG2	liver:	n/a	n/a
40	ZNF384	chr7:6120321-6120590	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:6120527-6121551	U87	brain:	n/a	n/a
42	E2F4	chr7:6120547-6121422	GM12878	blood:	n/a	chr7:6121085-6121094 chr7:6121034-6121043
43	SIN3A	chr7:6120571-6121482	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr7:6120517-6121500	GM12878	blood:	n/a	n/a
45	MAX	chr7:6120547-6121629	A549	lung:	n/a	n/a
46	PBX3	chr7:6120506-6121583	A549	lung:	n/a	n/a
47	HEY1	chr7:6120579-6121628	HepG2	liver:	n/a	chr7:6121027-6121042
48	RFX5	chr7:6120504-6120750	K562	blood:	n/a	n/a
49	NR2F2	chr7:6119946-6121561	K562	blood:	n/a	n/a
50	SIN3AK20	chr7:6120461-6121501	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6118710..6122632-chr7:6142742..6146844,10	K562	blood:
2	chr7:6096078..6098948-chr7:6116857..6121575,6	K562	blood:
3	chr7:6098536..6099058-chr7:6120395..6121392,2	Hela-S3	cervix:
4	chr7:6097184..6100296-chr7:6118283..6122245,9	MCF-7	breast:
5	chr7:6119410..6124898-chr7:6141396..6145150,7	MCF-7	breast:
6	chr7:6119521..6122293-chr7:6142698..6146719,8	K562	blood:
7	chr7:6118878..6122850-chr7:6140823..6146720,14	MCF-7	breast:
8	chr7:6090422..6101465-chr7:6116449..6124326,16	K562	blood:
9	chr7:6095667..6100309-chr7:6118978..6123029,12	MCF-7	breast:
10	chr11:67231739..67232585-chr7:6120356..6121094,2	NB4	blood:

Variant related genes	Relation type
ENSG00000264605	TF binding region
ENSG00000231704	TF binding region
ENSG00000086232	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000252929	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55744865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58570609	1.00[AMR][1000 genomes]
rs58784675	1.00[AMR][1000 genomes]
rs59137079	1.00[AMR][1000 genomes]
rs59396340	1.00[AMR][1000 genomes]
rs61340688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61735883	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61751884	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71541538	1.00[AMR][1000 genomes]
rs7794248	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	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
12	nsv1018388	chr7:6038713-6131169	Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 miRNA target site	58 gene(s)	inside rSNPs	diseases
13	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
14	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	esv3405881	chr7:6087760-6122016	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv5628	chr7:6105462-6147148	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 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	chr7:6117400-6120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:6117600-6120600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:6117600-6120600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:6119800-6121600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:6119800-6121600	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr7:6119800-6121800	Active TSS	K562	blood
7	chr7:6120000-6120600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr7:6120000-6120600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr7:6120000-6120600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr7:6120000-6120600	Flanking Active TSS	Dnd41	blood
11	chr7:6120000-6120600	Active TSS	HepG2	liver
12	chr7:6120000-6120800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr7:6120000-6120800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr7:6120000-6120800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr7:6120000-6120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:6120000-6120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:6120000-6120800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:6120000-6121400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:6120000-6121400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:6120000-6121400	Active TSS	Duodenum Mucosa	Duodenum
21	chr7:6120000-6121400	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr7:6120000-6121600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:6120000-6121600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:6120000-6121600	Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:6120000-6121600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:6120000-6121600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:6120000-6121600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:6120000-6121600	Active TSS	Brain Angular Gyrus	brain
29	chr7:6120000-6121600	Active TSS	Brain Hippocampus Middle	brain
30	chr7:6120000-6121600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:6120000-6121600	Active TSS	Brain Substantia Nigra	brain
32	chr7:6120000-6121600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:6120000-6121600	Active TSS	Esophagus	oesophagus
34	chr7:6120000-6121600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr7:6120000-6121600	Active TSS	Fetal Intestine Large	intestine
36	chr7:6120000-6121600	Active TSS	Fetal Muscle Leg	muscle
37	chr7:6120000-6121600	Active TSS	Psoas Muscle	Psoas
38	chr7:6120000-6121600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr7:6120000-6121600	Active TSS	Right Atrium	heart
40	chr7:6120000-6121600	Active TSS	Right Ventricle	heart
41	chr7:6120000-6121600	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr7:6120000-6121600	Active TSS	Stomach Smooth Muscle	stomach
43	chr7:6120000-6121600	Active TSS	A549	lung
44	chr7:6120000-6121600	Active TSS	Hela-S3	cervix
45	chr7:6120000-6121600	Active TSS	NHDF-Ad	bronchial
46	chr7:6120000-6121800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:6120000-6121800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:6120000-6121800	Active TSS	Fetal Kidney	kidney
49	chr7:6120200-6120600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:6120200-6120600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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