Variant report

Variant	rs2091486
Chromosome Location	chr6:144867916-144867917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144867913..144870322-chr6:144871026..144873651,2	K562	blood:
2	chr6:144865656..144868060-chr6:146055980..146058082,2	K562	blood:
3	chr6:144865762..144868928-chr6:144869239..144873744,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270638	Chromatin interaction
ENSG00000112425	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12661566	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12663647	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12664494	0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12664819	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1918751	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1918752	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1997252	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2293536	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3811100	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4076068	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4896728	0.90[ASN][1000 genomes]
rs9321980	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9376823	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9376824	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9376826	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9376828	0.88[ASN][1000 genomes]
rs9386070	0.95[ASN][1000 genomes]
rs9386071	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9386072	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9386073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9390170	0.95[ASN][1000 genomes]
rs9390172	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9390174	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9390175	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9390176	0.88[ASN][1000 genomes]
rs9390178	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9399480	0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9399481	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9403563	0.84[ASN][1000 genomes]
rs9403564	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9403567	0.88[ASN][1000 genomes]
rs9497009	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[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	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
4	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:144815200-144881000	Weak transcription	NHEK	skin
6	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:144831400-144879000	Strong transcription	Primary B cells from cord blood	blood
8	chr6:144833800-144868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:144837200-144880800	Weak transcription	Brain Angular Gyrus	brain
10	chr6:144844400-144870000	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:144850200-144877400	Weak transcription	HMEC	breast
12	chr6:144850400-144903200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:144850400-144903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:144850400-144904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:144850600-144870800	Weak transcription	Right Ventricle	heart
16	chr6:144850600-144881600	Weak transcription	Brain Anterior Caudate	brain
17	chr6:144852400-144870600	Weak transcription	Aorta	Aorta
18	chr6:144853600-144896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:144854400-144873400	Weak transcription	Pancreas	Pancrea
20	chr6:144854600-144870000	Weak transcription	NH-A	brain
21	chr6:144854600-144881200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:144856000-144875800	Weak transcription	Fetal Heart	heart
23	chr6:144857200-144904000	Weak transcription	Psoas Muscle	Psoas
24	chr6:144858200-144887800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr6:144858600-144879200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:144858600-144879400	Strong transcription	HepG2	liver
27	chr6:144858800-144868200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:144858800-144868600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:144859600-144878600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:144860000-144868400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:144860200-144868200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:144860200-144868200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:144860200-144879200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:144860400-144868400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:144860400-144868600	Strong transcription	Fetal Thymus	thymus
36	chr6:144860800-144869000	Strong transcription	Fetal Muscle Leg	muscle
37	chr6:144861000-144868200	Strong transcription	Left Ventricle	heart
38	chr6:144861000-144878400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:144861200-144885000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:144861800-144870600	Weak transcription	Thymus	Thymus
41	chr6:144861800-144876400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:144862200-144873400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:144862400-144870600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:144862400-144872400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:144862800-144869800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr6:144864000-144876600	Weak transcription	Gastric	stomach
47	chr6:144864200-144872000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:144864400-144878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:144864600-144869800	Weak transcription	GM12878-XiMat	blood
50	chr6:144864600-144870400	Weak transcription	Duodenum Mucosa	Duodenum

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