Variant report

Variant	rs773385
Chromosome Location	chr7:40012619-40012620
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39992179..39995720-chr7:40011134..40014847,3	K562	blood:
2	chr7:40005726..40008469-chr7:40010129..40013269,3	K562	blood:
3	chr7:39991743..39994324-chr7:40009939..40012634,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10081308	0.86[EUR][1000 genomes]
rs10156182	0.97[EUR][1000 genomes]
rs10234693	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10243593	0.81[EUR][1000 genomes]
rs10246466	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1024680	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10267954	0.81[EUR][1000 genomes]
rs10268288	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10272641	0.96[EUR][1000 genomes]
rs10275761	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1082028	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1082030	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10951623	0.96[ASN][1000 genomes]
rs11760739	0.81[EUR][1000 genomes]
rs11763047	0.80[EUR][1000 genomes]
rs11768464	0.81[EUR][1000 genomes]
rs11771104	0.87[AFR][1000 genomes]
rs11977756	0.96[ASN][1000 genomes]
rs11980745	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12334141	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12530776	0.81[EUR][1000 genomes]
rs12530835	0.94[ASN][1000 genomes]
rs12531774	0.83[ASN][1000 genomes]
rs12532714	0.94[ASN][1000 genomes]
rs12533272	0.95[EUR][1000 genomes]
rs12534074	0.88[EUR][1000 genomes]
rs12534103	0.93[ASN][1000 genomes]
rs12535524	0.82[EUR][1000 genomes]
rs12539956	0.93[ASN][1000 genomes]
rs1257699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12672040	0.95[ASN][1000 genomes]
rs12672136	0.91[ASN][1000 genomes]
rs12672142	0.91[ASN][1000 genomes]
rs1403381	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1568645	0.91[EUR][1000 genomes]
rs17171637	0.96[ASN][1000 genomes]
rs17537767	0.96[ASN][1000 genomes]
rs1874233	0.81[EUR][1000 genomes]
rs1881684	0.81[EUR][1000 genomes]
rs2024200	0.82[EUR][1000 genomes]
rs2052097	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2109340	0.88[EUR][1000 genomes]
rs2159488	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2329693	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28742222	0.87[EUR][1000 genomes]
rs33999222	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3735135	0.96[ASN][1000 genomes]
rs3847018	0.87[AFR][1000 genomes]
rs3847020	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3847021	0.94[EUR][1000 genomes]
rs4344004	0.96[ASN][1000 genomes]
rs4723923	0.94[ASN][1000 genomes]
rs4723924	0.87[AFR][1000 genomes]
rs4723925	0.83[ASN][1000 genomes]
rs4723929	0.94[EUR][1000 genomes]
rs4723931	0.87[EUR][1000 genomes]
rs60315659	0.93[ASN][1000 genomes]
rs6462956	0.82[EUR][1000 genomes]
rs6952597	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6960111	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6963804	0.88[EUR][1000 genomes]
rs6966917	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6970705	0.84[AFR][1000 genomes]
rs6970838	0.87[AFR][1000 genomes]
rs6975853	0.94[EUR][1000 genomes]
rs731847	0.95[EUR][1000 genomes]
rs731848	0.95[EUR][1000 genomes]
rs773379	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs773381	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs773386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs773393	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs773397	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs773402	0.97[EUR][1000 genomes]
rs773403	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs773410	0.88[EUR][1000 genomes]
rs773413	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs773414	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs773415	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs773424	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7790624	0.82[EUR][1000 genomes]
rs7797041	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7799846	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7810509	0.87[EUR][1000 genomes]
rs9639818	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9690188	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39994200-40027200	Weak transcription	HSMM	muscle
3	chr7:39994800-40018000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:39995000-40018200	Weak transcription	Spleen	Spleen
5	chr7:39995200-40042600	Weak transcription	K562	blood
6	chr7:39996800-40014800	Weak transcription	Right Ventricle	heart
7	chr7:39996800-40016600	Weak transcription	Gastric	stomach
8	chr7:39997200-40015200	Weak transcription	Small Intestine	intestine
9	chr7:39997800-40027400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:39998000-40027200	Weak transcription	Hela-S3	cervix
11	chr7:39998200-40013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:39999800-40013600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:40000400-40016600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:40001000-40016600	Weak transcription	Dnd41	blood
15	chr7:40001000-40018600	Weak transcription	Thymus	Thymus
16	chr7:40001200-40014800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:40001200-40016800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:40001200-40018200	Weak transcription	Fetal Thymus	thymus
19	chr7:40005600-40021000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:40005600-40021000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:40006200-40015000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:40006600-40018200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr7:40006600-40019800	Enhancers	Primary B cells from peripheral blood	blood
24	chr7:40006800-40031200	Weak transcription	Fetal Stomach	stomach
25	chr7:40007000-40014600	Weak transcription	Fetal Intestine Small	intestine
26	chr7:40007000-40014800	Weak transcription	Left Ventricle	heart
27	chr7:40007000-40014800	Weak transcription	Psoas Muscle	Psoas
28	chr7:40007200-40017400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:40007200-40027200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:40007600-40027200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:40008200-40016400	Weak transcription	Aorta	Aorta
32	chr7:40008200-40016800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:40008800-40018200	Weak transcription	Right Atrium	heart
34	chr7:40009000-40016800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:40009400-40015200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:40009400-40020800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr7:40009400-40027200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:40009400-40027400	Weak transcription	Osteobl	bone
39	chr7:40009600-40015200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:40009600-40016000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:40009600-40016600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:40009600-40016600	Weak transcription	Brain Substantia Nigra	brain
43	chr7:40009600-40018000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:40009600-40027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:40009800-40027200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:40010000-40014000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:40010000-40016400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:40010000-40024600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:40010000-40026800	Weak transcription	NHEK	skin
50	chr7:40010200-40025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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