Variant report

Variant	rs62499473
Chromosome Location	chr7:96781057-96781058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:96779781..96781668-chr7:96787687..96790024,2	K562	blood:
2	chr7:96774472..96776990-chr7:96778997..96783154,4	K562	blood:
3	chr7:96775014..96778181-chr7:96779788..96783154,4	K562	blood:

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

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

rs_ID	r²[population]
rs1014341	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10229181	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10233801	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10235199	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10252102	0.81[EUR][1000 genomes]
rs10260298	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10274547	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10281783	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11972232	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1199289	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1199290	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1199291	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1199292	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12056091	0.81[EUR][1000 genomes]
rs12669915	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12671362	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13475	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1534370	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1880732	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1917941	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28646010	0.81[EUR][1000 genomes]
rs34159711	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6465571	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6943457	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6961807	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6963921	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7803945	0.81[EUR][1000 genomes]
rs7810432	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9656043	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019725	chr7:96749866-96850819	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539029	chr7:96749866-96850819	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96760400-96796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:96768400-96789000	Weak transcription	Aorta	Aorta
3	chr7:96768800-96790400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:96768800-96797800	Weak transcription	Left Ventricle	heart
5	chr7:96769000-96789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:96769000-96790000	Weak transcription	Ovary	ovary
7	chr7:96769000-96799600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:96769000-96811600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:96769200-96789800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:96769200-96791200	Weak transcription	Fetal Kidney	kidney
11	chr7:96769400-96793400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:96769600-96783000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:96769600-96788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:96769600-96788800	Weak transcription	Primary B cells from cord blood	blood
15	chr7:96769600-96789000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:96769800-96788400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:96769800-96789000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:96771400-96784200	Weak transcription	Liver	Liver
19	chr7:96771400-96818200	Weak transcription	A549	lung
20	chr7:96771600-96784200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:96771600-96786400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:96772400-96782400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:96772400-96788800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:96772800-96788400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:96773000-96786400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:96776400-96788600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:96777200-96788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:96777600-96786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:96778000-96784200	Weak transcription	Fetal Intestine Small	intestine
30	chr7:96778000-96788400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:96778600-96782200	Weak transcription	GM12878-XiMat	blood
32	chr7:96778600-96789200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:96778600-96792600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:96778800-96781600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:96779000-96789000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:96779000-96789200	Weak transcription	Lung	lung
37	chr7:96779200-96782400	Weak transcription	Fetal Lung	lung
38	chr7:96779600-96783000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:96779600-96788800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr7:96780000-96790800	Weak transcription	Fetal Brain Male	brain
41	chr7:96780600-96781400	Strong transcription	Primary T cells from cord blood	blood
42	chr7:96780600-96783600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:96780800-96783000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:96781000-96781800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:96781000-96781800	Strong transcription	K562	blood

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