Variant report

Variant	rs62499474
Chromosome Location	chr7:96790438-96790439
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	chr7:96784450..96786338-chr7:96788596..96790706,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11976587	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11984368	0.82[EUR][1000 genomes]
rs2037782	0.82[EUR][1000 genomes]
rs56074841	0.82[EUR][1000 genomes]
rs60195718	0.81[EUR][1000 genomes]
rs62499469	0.82[EUR][1000 genomes]
rs62499470	0.82[EUR][1000 genomes]
rs62499471	0.82[EUR][1000 genomes]
rs62499475	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62499477	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62499478	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62499479	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73233828	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73233831	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73233843	0.82[EUR][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96760400-96796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:96768800-96797800	Weak transcription	Left Ventricle	heart
3	chr7:96769000-96799600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:96769000-96811600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:96769200-96791200	Weak transcription	Fetal Kidney	kidney
6	chr7:96769400-96793400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:96771400-96818200	Weak transcription	A549	lung
8	chr7:96778600-96792600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:96780000-96790800	Weak transcription	Fetal Brain Male	brain
10	chr7:96783600-96797000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:96785600-96796800	Weak transcription	HepG2	liver
12	chr7:96787000-96795600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:96787400-96797600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:96787600-96796200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:96787600-96796600	Weak transcription	Esophagus	oesophagus
16	chr7:96788000-96791400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:96788200-96791200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr7:96788200-96791200	Weak transcription	Small Intestine	intestine
19	chr7:96788400-96790800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr7:96788400-96791200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr7:96788600-96790600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr7:96788600-96790600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:96788600-96790600	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr7:96788600-96790600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:96788600-96790600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:96788600-96791200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr7:96788600-96791200	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:96788800-96791000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:96789000-96790600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:96789000-96792000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:96789200-96791200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr7:96789400-96790800	Strong transcription	Primary B cells from cord blood	blood
33	chr7:96789400-96794800	Weak transcription	Liver	Liver
34	chr7:96789400-96812400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:96789400-96815400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:96789400-96818000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:96789600-96797000	Weak transcription	Aorta	Aorta
38	chr7:96789600-96797200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:96789600-96797200	Weak transcription	Lung	lung
40	chr7:96789600-96805200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:96789600-96818400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:96789800-96790600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr7:96789800-96791000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr7:96790000-96790600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:96790000-96790600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
46	chr7:96790000-96790600	ZNF genes & repeats	GM12878-XiMat	blood
47	chr7:96790000-96791000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr7:96790200-96790600	ZNF genes & repeats	Dnd41	blood
49	chr7:96790200-96790600	ZNF genes & repeats	K562	blood
50	chr7:96790200-96791200	ZNF genes & repeats	Fetal Lung	lung

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