Variant report

Variant	rs11780040
Chromosome Location	chr8:52786529-52786530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52785279..52786991-chr8:52811511..52813258,2	K562	blood:
2	chr8:52785415..52788968-chr8:52790350..52793500,3	K562	blood:

Variant related genes	Relation type
ENSG00000168300	Chromatin interaction
ENSG00000228801	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10504130	0.98[ASN][1000 genomes]
rs10958300	1.00[ASN][1000 genomes]
rs10958301	1.00[ASN][1000 genomes]
rs10958305	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11775587	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11775611	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11777016	1.00[ASN][1000 genomes]
rs11777714	1.00[ASN][1000 genomes]
rs11778849	0.98[ASN][1000 genomes]
rs11781330	0.98[ASN][1000 genomes]
rs11784869	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11785467	0.86[AMR][1000 genomes]
rs11785805	0.96[ASN][1000 genomes]
rs11787229	0.88[ASN][1000 genomes]
rs12675786	0.98[ASN][1000 genomes]
rs12675907	0.85[ASN][1000 genomes]
rs12676345	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12676780	0.95[ASN][1000 genomes]
rs12676835	0.96[ASN][1000 genomes]
rs12677407	0.96[ASN][1000 genomes]
rs12678639	0.96[ASN][1000 genomes]
rs12678646	0.81[AMR][1000 genomes]
rs12679287	0.96[ASN][1000 genomes]
rs12679983	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680128	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12681203	0.96[ASN][1000 genomes]
rs12681734	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274159	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13275967	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13276400	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16916820	0.98[ASN][1000 genomes]
rs16916856	0.98[ASN][1000 genomes]
rs16916865	0.98[ASN][1000 genomes]
rs16916906	1.00[ASN][1000 genomes]
rs16916961	0.96[ASN][1000 genomes]
rs17212214	0.96[ASN][1000 genomes]
rs17212256	0.96[ASN][1000 genomes]
rs17284746	0.96[ASN][1000 genomes]
rs2037138	0.98[ASN][1000 genomes]
rs2037139	1.00[ASN][1000 genomes]
rs2069119	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2176120	1.00[ASN][1000 genomes]
rs34004633	0.88[AMR][1000 genomes]
rs34058697	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34073804	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34213209	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34319820	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34364864	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34372756	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34677273	0.96[ASN][1000 genomes]
rs34780436	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34973406	0.98[ASN][1000 genomes]
rs35032384	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35509250	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35603537	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41453644	0.96[ASN][1000 genomes]
rs4292674	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4321994	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4418329	0.83[AMR][1000 genomes]
rs4436115	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4442134	0.83[AMR][1000 genomes]
rs4534123	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4573262	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4598243	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4626585	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57212480	0.98[ASN][1000 genomes]
rs58561048	0.98[ASN][1000 genomes]
rs58583070	0.87[ASN][1000 genomes]
rs59602923	0.96[ASN][1000 genomes]
rs60153173	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60304457	0.96[ASN][1000 genomes]
rs60796336	0.96[ASN][1000 genomes]
rs61326367	0.87[ASN][1000 genomes]
rs6768	0.86[AMR][1000 genomes]
rs6994203	0.93[ASN][1000 genomes]
rs71513546	0.83[AMR][1000 genomes]
rs71513549	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71513552	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71513561	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71513564	0.96[ASN][1000 genomes]
rs763550	0.98[ASN][1000 genomes]
rs9650179	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9650180	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9650305	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9792352	1.00[ASN][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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
5	nsv526922	chr8:52772515-52786791	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52764000-52793400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:52767400-52796600	Weak transcription	Fetal Brain Male	brain
3	chr8:52769800-52793600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:52771000-52797800	Weak transcription	Fetal Stomach	stomach
5	chr8:52771800-52797000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:52771800-52810800	Weak transcription	Esophagus	oesophagus
7	chr8:52772200-52807600	Weak transcription	HSMMtube	muscle
8	chr8:52772400-52793200	Weak transcription	Fetal Heart	heart
9	chr8:52773000-52791200	Weak transcription	Thymus	Thymus
10	chr8:52773000-52803200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:52773600-52797000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:52773600-52797200	Weak transcription	Placenta	Placenta
13	chr8:52779400-52796200	Weak transcription	Brain Germinal Matrix	brain
14	chr8:52779400-52809000	Weak transcription	Fetal Kidney	kidney
15	chr8:52780400-52796400	Weak transcription	Liver	Liver
16	chr8:52780800-52803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:52781000-52791200	Weak transcription	Fetal Lung	lung
18	chr8:52781000-52793400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:52781200-52788200	Weak transcription	Colonic Mucosa	Colon
20	chr8:52781200-52790600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:52782200-52809600	Weak transcription	Aorta	Aorta
22	chr8:52782800-52787800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:52782800-52791000	Weak transcription	Right Atrium	heart
24	chr8:52782800-52796200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:52783000-52791200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:52783000-52796800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:52783000-52797200	Weak transcription	HSMM	muscle
28	chr8:52783000-52803200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:52783000-52803400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:52783000-52803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:52783200-52791000	Weak transcription	Adipose Nuclei	Adipose
32	chr8:52783200-52795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:52783200-52796400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:52783200-52797200	Weak transcription	Fetal Brain Female	brain
35	chr8:52783400-52787000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:52783400-52787600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:52783400-52788800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:52783400-52796600	Weak transcription	NHEK	skin
39	chr8:52783400-52796800	Weak transcription	Fetal Intestine Large	intestine
40	chr8:52783400-52797000	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:52783600-52786800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:52783600-52791400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:52783800-52791600	Weak transcription	Osteobl	bone
44	chr8:52784000-52791400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:52784000-52793000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:52784000-52795600	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:52784000-52795800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:52784000-52797000	Weak transcription	HMEC	breast
49	chr8:52784000-52797000	Weak transcription	NH-A	brain
50	chr8:52784000-52806600	Weak transcription	Hela-S3	cervix

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