Variant report

Variant	rs11761430
Chromosome Location	chr7:27837358-27837359
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	chr7:27835817..27837849-chr7:27841961..27844840,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10228505	0.94[ASN][1000 genomes]
rs10228576	0.91[ASN][1000 genomes]
rs10245536	0.94[ASN][1000 genomes]
rs10257676	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs10281008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10486556	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10486562	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs10951178	0.85[EUR][1000 genomes]
rs10951180	0.90[EUR][1000 genomes]
rs10951181	0.90[EUR][1000 genomes]
rs11761467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761905	1.00[CHB][hapmap]
rs11763610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763861	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11765837	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768570	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11981911	1.00[CHB][hapmap]
rs11984239	0.94[ASN][1000 genomes]
rs17150567	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs17155691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17155744	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17155797	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17155802	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17155863	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17611272	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17684444	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17692264	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692895	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237344	0.90[EUR][1000 genomes]
rs2285929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28432782	0.94[ASN][1000 genomes]
rs28693893	0.94[ASN][1000 genomes]
rs28805873	0.94[ASN][1000 genomes]
rs56172733	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58979783	0.94[ASN][1000 genomes]
rs61179177	0.94[ASN][1000 genomes]
rs61446104	0.94[ASN][1000 genomes]
rs62449628	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62449630	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62449641	0.85[EUR][1000 genomes]
rs62451066	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62451068	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62451069	0.90[EUR][1000 genomes]
rs62451070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62451071	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62451072	0.94[ASN][1000 genomes]
rs62451074	0.94[ASN][1000 genomes]
rs62451078	0.94[ASN][1000 genomes]
rs62454809	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6979972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73075305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73075333	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73078729	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73078746	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73078762	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs739900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7797888	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:117 , 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	chr7:27801400-27838400	Weak transcription	Fetal Brain Female	brain
8	chr7:27801600-27852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
10	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
12	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
13	chr7:27820400-27847400	Weak transcription	Fetal Heart	heart
14	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
15	chr7:27824200-27843000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:27824600-27839000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:27824600-27840000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr7:27824600-27842800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:27824600-27843200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr7:27824800-27842800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr7:27825000-27842600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:27825600-27848000	Weak transcription	NHLF	lung
24	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:27826000-27838400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:27826600-27852800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:27826800-27837400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
30	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
31	chr7:27831200-27837600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr7:27831200-27837800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:27831200-27837800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:27831200-27838800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:27831200-27839000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:27831200-27842400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:27831200-27843400	Strong transcription	Placenta	Placenta
38	chr7:27831200-27844800	Strong transcription	HSMM	muscle
39	chr7:27831400-27838200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:27831400-27839200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:27831400-27839800	Strong transcription	Liver	Liver
42	chr7:27831600-27837400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:27831600-27837600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:27831600-27837800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:27831600-27837800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:27831600-27837800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr7:27831600-27842400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:27832600-27852800	Weak transcription	Lung	lung
49	chr7:27832600-27852800	Weak transcription	Thymus	Thymus
50	chr7:27832600-27856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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