Variant report

Variant	rs56916541
Chromosome Location	chr7:6163059-6163060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6160740..6163677-chr7:6167331..6169023,2	K562	blood:
2	chr7:6145257..6148014-chr7:6162760..6164511,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10245357	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10248850	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10253805	0.84[ASN][1000 genomes]
rs10254043	0.81[ASN][1000 genomes]
rs10257461	0.80[ASN][1000 genomes]
rs10265503	0.80[ASN][1000 genomes]
rs10272684	0.95[ASN][1000 genomes]
rs12536508	0.85[ASN][1000 genomes]
rs2107854	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301911	0.85[AMR][1000 genomes]
rs28727438	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28844441	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28847576	0.93[ASN][1000 genomes]
rs3793205	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4035512	0.81[ASN][1000 genomes]
rs59209465	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59527940	0.93[ASN][1000 genomes]
rs61443193	0.95[ASN][1000 genomes]
rs61634333	0.84[ASN][1000 genomes]
rs6463528	0.80[ASN][1000 genomes]
rs6463529	0.80[ASN][1000 genomes]
rs6953775	0.84[ASN][1000 genomes]
rs6964482	0.83[ASN][1000 genomes]
rs6973832	0.84[ASN][1000 genomes]
rs6979025	0.80[ASN][1000 genomes]
rs6979838	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7780867	0.81[ASN][1000 genomes]
rs7810368	0.84[ASN][1000 genomes]
rs9886265	0.80[ASN][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:123 , 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	chr7:6150600-6163800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:6150600-6166000	Strong transcription	HepG2	liver
6	chr7:6150600-6171400	Strong transcription	Dnd41	blood
7	chr7:6150800-6163600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:6150800-6165200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:6151000-6165000	Strong transcription	Placenta	Placenta
10	chr7:6151800-6163600	Strong transcription	Stomach Smooth Muscle	stomach
11	chr7:6153200-6163800	Strong transcription	Lung	lung
12	chr7:6156600-6164200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:6157400-6167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:6157400-6179000	Weak transcription	Fetal Brain Male	brain
15	chr7:6157400-6188400	Weak transcription	Psoas Muscle	Psoas
16	chr7:6157400-6189400	Weak transcription	Fetal Heart	heart
17	chr7:6158000-6165200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:6159000-6168200	Weak transcription	NHLF	lung
19	chr7:6159600-6178200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:6159800-6168400	Weak transcription	Small Intestine	intestine
21	chr7:6160000-6164000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr7:6160000-6165000	ZNF genes & repeats	Fetal Stomach	stomach
23	chr7:6160200-6163800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr7:6160400-6164000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:6160600-6164000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:6160600-6201800	Strong transcription	Fetal Thymus	thymus
27	chr7:6160800-6164200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:6161000-6172000	Strong transcription	Primary T cells from cord blood	blood
29	chr7:6161200-6163800	Strong transcription	Brain Angular Gyrus	brain
30	chr7:6161200-6164800	Strong transcription	Fetal Lung	lung
31	chr7:6161200-6165800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:6161200-6173200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:6161400-6163400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:6161400-6163600	Strong transcription	Fetal Intestine Large	intestine
35	chr7:6161400-6164400	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr7:6161400-6164600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:6161400-6165800	Strong transcription	Liver	Liver
38	chr7:6161400-6165800	Strong transcription	Fetal Brain Female	brain
39	chr7:6161400-6166400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:6161400-6169800	Weak transcription	HSMMtube	muscle
41	chr7:6161400-6171600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr7:6161400-6172000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:6161400-6172200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr7:6161400-6178200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:6161400-6180200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:6161400-6183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:6161400-6199600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:6161400-6202200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr7:6161600-6163400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:6161600-6163400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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