Variant report

Variant	rs10951180
Chromosome Location	chr7:27843713-27843714
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27842369..27845574-chr7:27847275..27850626,3	K562	blood:
2	chr7:27835817..27837849-chr7:27841961..27844840,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10281008	0.87[EUR][1000 genomes]
rs10486556	0.82[EUR][1000 genomes]
rs10951178	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761430	0.90[EUR][1000 genomes]
rs11761467	0.90[EUR][1000 genomes]
rs11763610	0.85[EUR][1000 genomes]
rs11763861	0.83[EUR][1000 genomes]
rs11765837	0.83[EUR][1000 genomes]
rs11768570	0.88[EUR][1000 genomes]
rs11769157	0.87[EUR][1000 genomes]
rs17155691	0.83[EUR][1000 genomes]
rs17155744	0.85[EUR][1000 genomes]
rs17155797	0.85[EUR][1000 genomes]
rs17155802	0.87[EUR][1000 genomes]
rs17155863	0.90[EUR][1000 genomes]
rs17611272	0.82[EUR][1000 genomes]
rs17684444	0.82[EUR][1000 genomes]
rs17692264	0.90[EUR][1000 genomes]
rs2237344	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285929	0.87[EUR][1000 genomes]
rs56172733	0.83[EUR][1000 genomes]
rs62449628	0.85[EUR][1000 genomes]
rs62449630	0.85[EUR][1000 genomes]
rs62449641	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62451066	0.87[EUR][1000 genomes]
rs62451068	0.90[EUR][1000 genomes]
rs62451069	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62451070	0.90[EUR][1000 genomes]
rs62451071	0.87[EUR][1000 genomes]
rs62454809	0.83[EUR][1000 genomes]
rs6462058	0.82[ASN][1000 genomes]
rs6979972	0.81[EUR][1000 genomes]
rs70977004	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73075305	0.90[EUR][1000 genomes]
rs73075333	0.90[EUR][1000 genomes]
rs73078729	0.82[EUR][1000 genomes]
rs73078762	0.85[EUR][1000 genomes]
rs739900	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
2	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
4	chr7:27798600-27847800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
6	chr7:27801200-27851800	Weak transcription	Fetal Brain Male	brain
7	chr7:27801600-27852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
9	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
11	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
12	chr7:27820400-27847400	Weak transcription	Fetal Heart	heart
13	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
14	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:27825600-27848000	Weak transcription	NHLF	lung
16	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:27826600-27852800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
20	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
21	chr7:27831200-27844800	Strong transcription	HSMM	muscle
22	chr7:27832600-27852800	Weak transcription	Lung	lung
23	chr7:27832600-27852800	Weak transcription	Thymus	Thymus
24	chr7:27832600-27856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:27832800-27853200	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:27833000-27858000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:27833600-27856000	Weak transcription	Brain Anterior Caudate	brain
28	chr7:27833600-27858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:27834200-27845600	Weak transcription	Brain Germinal Matrix	brain
30	chr7:27834200-27847800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:27834400-27873600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:27834800-27848000	Weak transcription	HMEC	breast
33	chr7:27834800-27855600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:27835000-27856000	Weak transcription	GM12878-XiMat	blood
35	chr7:27835200-27848000	Weak transcription	NHEK	skin
36	chr7:27835200-27856000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:27835200-27857600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:27835200-27878200	Weak transcription	Gastric	stomach
39	chr7:27835800-27847600	Weak transcription	NH-A	brain
40	chr7:27836000-27847600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:27836000-27847800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:27836000-27856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:27836200-27847600	Weak transcription	HSMMtube	muscle
44	chr7:27836200-27848000	Weak transcription	K562	blood
45	chr7:27836400-27844000	Weak transcription	Fetal Lung	lung
46	chr7:27836400-27856000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:27836400-27856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:27836400-27867400	Weak transcription	HUVEC	blood vessel
49	chr7:27836400-27878000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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