Variant report

Variant	rs56191313
Chromosome Location	chr7:6160549-6160550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6156091..6157968-chr7:6159776..6161519,2	K562	blood:
2	chr7:6151184..6155498-chr7:6158937..6162352,4	K562	blood:
3	chr7:6151627..6154487-chr7:6159088..6161082,3	K562	blood:

Variant related genes	Relation type
ENSG00000106346	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11984027	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107853	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34437875	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55720407	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55951843	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56148129	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56197464	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56270961	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409112	0.80[AMR][1000 genomes]
rs58988271	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59486546	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753119	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61753120	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965578	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058617	0.88[EUR][1000 genomes]
rs73058626	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058640	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058644	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058659	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
11	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
12	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6145600-6186000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:6145600-6186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
4	chr7:6150600-6160600	Strong transcription	Primary T cells from cord blood	blood
5	chr7:6150600-6160800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:6150600-6160800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:6150600-6162000	Strong transcription	Osteobl	bone
8	chr7:6150600-6162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:6150600-6163800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:6150600-6166000	Strong transcription	HepG2	liver
11	chr7:6150600-6171400	Strong transcription	Dnd41	blood
12	chr7:6150800-6160600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:6150800-6161800	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:6150800-6163600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:6150800-6165200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:6151000-6165000	Strong transcription	Placenta	Placenta
17	chr7:6151200-6162600	Strong transcription	Left Ventricle	heart
18	chr7:6151800-6163600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr7:6152000-6160800	Strong transcription	Fetal Lung	lung
20	chr7:6152200-6163000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:6152400-6160800	Strong transcription	Brain Anterior Caudate	brain
22	chr7:6153200-6163800	Strong transcription	Lung	lung
23	chr7:6154600-6162800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:6154800-6160600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:6154800-6160800	Strong transcription	Liver	Liver
26	chr7:6154800-6160800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:6154800-6163000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:6155800-6161400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:6156600-6164200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:6157200-6160600	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:6157200-6160800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:6157200-6160800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:6157200-6160800	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:6157200-6161200	Weak transcription	Spleen	Spleen
35	chr7:6157400-6160800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:6157400-6160800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:6157400-6160800	Weak transcription	HSMMtube	muscle
38	chr7:6157400-6167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:6157400-6179000	Weak transcription	Fetal Brain Male	brain
40	chr7:6157400-6188400	Weak transcription	Psoas Muscle	Psoas
41	chr7:6157400-6189400	Weak transcription	Fetal Heart	heart
42	chr7:6157600-6160800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:6157600-6161000	Weak transcription	NHDF-Ad	bronchial
44	chr7:6157800-6160600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:6157800-6160800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:6157800-6160800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:6157800-6160800	Strong transcription	Hela-S3	cervix
48	chr7:6158000-6160800	Strong transcription	Fetal Brain Female	brain
49	chr7:6158000-6162800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:6158000-6165200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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