Variant report

Variant	rs57217108
Chromosome Location	chr6:87870625-87870626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:87865317..87867373-chr6:87870265..87871940,3	K562	blood:
2	chr6:87863454..87865294-chr6:87869676..87871919,2	K562	blood:
3	chr6:87862537..87867445-chr6:87868092..87873606,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272008	Chromatin interaction
ENSG00000188994	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10488045	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10498960	0.88[EUR][1000 genomes]
rs16878473	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16878570	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16878622	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16878638	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16878712	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16878713	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16878729	0.91[EUR][1000 genomes]
rs16878734	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs16878736	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs16878809	0.82[EUR][1000 genomes]
rs16878856	0.88[EUR][1000 genomes]
rs16878863	0.88[EUR][1000 genomes]
rs16878942	0.88[EUR][1000 genomes]
rs1925693	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41273281	0.88[EUR][1000 genomes]
rs41273283	0.88[EUR][1000 genomes]
rs55647962	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs56096438	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56193950	0.88[EUR][1000 genomes]
rs56678817	0.88[EUR][1000 genomes]
rs56743579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56847789	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56947685	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56999910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57043501	0.88[EUR][1000 genomes]
rs57116567	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57421283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57607342	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57962992	0.97[EUR][1000 genomes]
rs58032842	1.00[AMR][1000 genomes]
rs58124219	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58269367	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58327183	0.88[EUR][1000 genomes]
rs58474842	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58576901	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58731649	0.88[EUR][1000 genomes]
rs58735749	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58751410	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59034165	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59138817	0.88[EUR][1000 genomes]
rs59150116	0.88[EUR][1000 genomes]
rs59214037	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59344869	0.95[AFR][1000 genomes]
rs59495279	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59654654	0.87[EUR][1000 genomes]
rs59875769	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59964119	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60074363	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60285195	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60544317	0.85[EUR][1000 genomes]
rs60746078	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60845773	0.88[EUR][1000 genomes]
rs60985818	0.94[EUR][1000 genomes]
rs60994855	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61047847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61379368	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61705669	0.88[EUR][1000 genomes]
rs73483720	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483728	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483743	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483749	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483752	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483758	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483760	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483765	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483769	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483771	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73483774	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483790	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483796	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73483799	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73485808	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73485811	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73485813	0.94[EUR][1000 genomes]
rs73485815	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73485820	0.88[EUR][1000 genomes]
rs73485826	0.88[EUR][1000 genomes]
rs73485828	0.88[EUR][1000 genomes]
rs73485831	0.88[EUR][1000 genomes]
rs73485848	0.88[EUR][1000 genomes]
rs73485849	0.88[EUR][1000 genomes]
rs73499768	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73499770	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73499771	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73499800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73499802	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501611	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73501620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501623	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501636	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501638	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501641	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501658	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73501662	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751992	0.84[AFR][1000 genomes];1.00[AMR][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	nsv1024751	chr6:87433199-87908721	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv604114	chr6:87816905-87906053	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758067	chr6:87817883-87992957	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759453	chr6:87817883-87992957	Enhancers Active TSS Weak transcription Strong transcription Flanking 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	13 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	chr6:87866400-87871000	Weak transcription	Gastric	stomach
2	chr6:87866600-87873800	Weak transcription	Psoas Muscle	Psoas
3	chr6:87866600-87877000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:87866600-87878200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:87866600-87879000	Weak transcription	Esophagus	oesophagus
6	chr6:87866600-87880000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:87866600-87883600	Weak transcription	Right Ventricle	heart
8	chr6:87866600-87883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:87866600-87885400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr6:87866600-87886000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:87866600-87886600	Weak transcription	Aorta	Aorta
12	chr6:87866600-87889800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:87866600-87890000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:87866600-87890200	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:87866800-87871000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:87866800-87871200	Weak transcription	Brain Anterior Caudate	brain
17	chr6:87866800-87871200	Weak transcription	Brain Substantia Nigra	brain
18	chr6:87866800-87873200	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:87866800-87873200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:87866800-87873400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:87866800-87873600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:87866800-87873600	Weak transcription	Stomach Mucosa	stomach
23	chr6:87866800-87875800	Weak transcription	A549	lung
24	chr6:87866800-87876200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:87867000-87871000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:87867000-87871000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:87867000-87873400	Weak transcription	NHDF-Ad	bronchial
28	chr6:87867000-87873600	Weak transcription	Fetal Lung	lung
29	chr6:87867000-87873800	Weak transcription	Right Atrium	heart
30	chr6:87867000-87874000	Weak transcription	Fetal Kidney	kidney
31	chr6:87867000-87875800	Weak transcription	Osteobl	bone
32	chr6:87867000-87876000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:87867000-87876200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:87867000-87876800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:87867000-87883400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:87867000-87886000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:87867000-87895600	Weak transcription	HSMM	muscle
38	chr6:87867000-87915600	Weak transcription	NH-A	brain
39	chr6:87867200-87871200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:87867200-87876200	Weak transcription	NHEK	skin
41	chr6:87867200-87883200	Weak transcription	HMEC	breast
42	chr6:87867200-87893400	Weak transcription	Adipose Nuclei	Adipose
43	chr6:87867400-87871000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:87867400-87873600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:87867400-87874800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr6:87867400-87876200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:87867400-87880800	Weak transcription	Liver	Liver
48	chr6:87867400-87881400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:87867600-87871800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:87867600-87873400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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