Variant report

Variant	rs10242394
Chromosome Location	chr7:6162449-6162450
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	chr7:6160832..6162553-chr7:6165906..6168472,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10046499	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10216107	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10225119	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10226743	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10228389	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228430	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10246266	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10250285	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10254689	0.83[ASN][1000 genomes]
rs10255598	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10255914	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10255918	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10257181	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10257248	0.94[ASN][1000 genomes]
rs10257654	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10257971	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10261466	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10275021	0.94[ASN][1000 genomes]
rs10279137	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10280585	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282278	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11768047	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11770730	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12667323	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12667392	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs13437890	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17136048	0.94[ASN][1000 genomes]
rs28385378	1.00[ASN][1000 genomes]
rs28575447	0.97[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs28589289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28758696	0.82[AFR][1000 genomes]
rs28880007	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs34123833	0.88[ASN][1000 genomes]
rs56974330	0.80[ASN][1000 genomes]
rs60892137	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61750868	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61753115	1.00[ASN][1000 genomes]
rs61753118	0.88[ASN][1000 genomes]
rs6944071	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6949823	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7796322	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	chr7:6150600-6162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:6150600-6163800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:6150600-6166000	Strong transcription	HepG2	liver
7	chr7:6150600-6171400	Strong transcription	Dnd41	blood
8	chr7:6150800-6163600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:6150800-6165200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:6151000-6165000	Strong transcription	Placenta	Placenta
11	chr7:6151200-6162600	Strong transcription	Left Ventricle	heart
12	chr7:6151800-6163600	Strong transcription	Stomach Smooth Muscle	stomach
13	chr7:6152200-6163000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:6153200-6163800	Strong transcription	Lung	lung
15	chr7:6154600-6162800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:6154800-6163000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:6156600-6164200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:6157400-6167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:6157400-6179000	Weak transcription	Fetal Brain Male	brain
20	chr7:6157400-6188400	Weak transcription	Psoas Muscle	Psoas
21	chr7:6157400-6189400	Weak transcription	Fetal Heart	heart
22	chr7:6158000-6162800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:6158000-6165200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:6158400-6162600	Strong transcription	Ovary	ovary
25	chr7:6158600-6163000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:6158800-6162800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:6159000-6168200	Weak transcription	NHLF	lung
28	chr7:6159400-6162800	Strong transcription	Gastric	stomach
29	chr7:6159600-6178200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:6159800-6162800	Strong transcription	Pancreas	Pancrea
31	chr7:6159800-6168400	Weak transcription	Small Intestine	intestine
32	chr7:6160000-6164000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr7:6160000-6165000	ZNF genes & repeats	Fetal Stomach	stomach
34	chr7:6160200-6163800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr7:6160400-6164000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:6160600-6162600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:6160600-6164000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:6160600-6201800	Strong transcription	Fetal Thymus	thymus
39	chr7:6160800-6162600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr7:6160800-6164200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:6161000-6172000	Strong transcription	Primary T cells from cord blood	blood
42	chr7:6161200-6162600	Strong transcription	Brain Anterior Caudate	brain
43	chr7:6161200-6162600	Strong transcription	Brain Substantia Nigra	brain
44	chr7:6161200-6162800	Strong transcription	A549	lung
45	chr7:6161200-6163000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:6161200-6163800	Strong transcription	Brain Angular Gyrus	brain
47	chr7:6161200-6164800	Strong transcription	Fetal Lung	lung
48	chr7:6161200-6165800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:6161200-6173200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:6161400-6162800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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