Variant report

Variant	rs11768570
Chromosome Location	chr7:27849587-27849588
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	chr7:27842369..27845574-chr7:27847275..27850626,3	K562	blood:
2	chr7:27848154..27850966-chr7:27851903..27854305,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10228505	0.88[ASN][1000 genomes]
rs10228576	0.85[ASN][1000 genomes]
rs10245536	0.88[ASN][1000 genomes]
rs10281008	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10486556	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10486562	0.88[ASN][1000 genomes]
rs10951178	0.84[EUR][1000 genomes]
rs10951180	0.88[EUR][1000 genomes]
rs10951181	0.88[EUR][1000 genomes]
rs11761430	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11761467	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763610	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11763861	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11765837	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769157	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11984239	0.88[ASN][1000 genomes]
rs17150567	0.88[ASN][1000 genomes]
rs17155691	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17155744	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17155797	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17155802	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17155863	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17611272	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17684444	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17692264	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17692895	0.80[EUR][1000 genomes]
rs2237344	0.88[EUR][1000 genomes]
rs2285929	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28432782	0.88[ASN][1000 genomes]
rs28693893	0.88[ASN][1000 genomes]
rs28805873	0.88[ASN][1000 genomes]
rs56172733	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58979783	0.88[ASN][1000 genomes]
rs61179177	0.88[ASN][1000 genomes]
rs61446104	0.88[ASN][1000 genomes]
rs62449628	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62449630	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62449641	0.84[EUR][1000 genomes]
rs62451066	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62451068	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62451069	0.88[EUR][1000 genomes]
rs62451070	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62451071	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62451072	0.88[ASN][1000 genomes]
rs62451074	0.88[ASN][1000 genomes]
rs62451078	0.88[ASN][1000 genomes]
rs62454809	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6979972	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73075305	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73075333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73078729	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73078746	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73078762	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs739900	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7797888	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 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	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:27801200-27851800	Weak transcription	Fetal Brain Male	brain
6	chr7:27801600-27852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
8	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
10	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
11	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
12	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:27826600-27852800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
17	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
18	chr7:27832600-27852800	Weak transcription	Lung	lung
19	chr7:27832600-27852800	Weak transcription	Thymus	Thymus
20	chr7:27832600-27856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:27832800-27853200	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:27833000-27858000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:27833600-27856000	Weak transcription	Brain Anterior Caudate	brain
24	chr7:27833600-27858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:27834400-27873600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:27834800-27855600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:27835000-27856000	Weak transcription	GM12878-XiMat	blood
28	chr7:27835200-27856000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:27835200-27857600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:27835200-27878200	Weak transcription	Gastric	stomach
31	chr7:27836000-27856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr7:27836400-27856000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:27836400-27856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:27836400-27867400	Weak transcription	HUVEC	blood vessel
35	chr7:27836400-27878000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:27836600-27852600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:27836800-27851400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:27836800-27852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:27836800-27852800	Weak transcription	Fetal Stomach	stomach
41	chr7:27836800-27856400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:27837000-27856400	Weak transcription	Left Ventricle	heart
43	chr7:27837000-27873800	Weak transcription	Psoas Muscle	Psoas
44	chr7:27837600-27852800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:27837600-27853400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:27837600-27857200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:27838600-27851200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:27839000-27856400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:27839800-27851200	Weak transcription	Liver	Liver
50	chr7:27840000-27880600	Weak transcription	Hela-S3	cervix

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