Variant report

Variant	rs2234265
Chromosome Location	chr1:46646725-46646726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46644247..46646808-chr1:46647316..46649049,2	MCF-7	breast:
2	chr1:46639827..46642662-chr1:46645752..46647477,2	MCF-7	breast:
3	chr1:46596322..46599867-chr1:46644378..46648277,6	K562	blood:
4	chr1:46502754..46504889-chr1:46644727..46646775,2	MCF-7	breast:
5	chr1:46645330..46646916-chr1:46688561..46690011,13	MCF-7	breast:
6	chr1:46358179..46359900-chr1:46645424..46647208,2	MCF-7	breast:
7	chr1:46592691..46601867-chr1:46642778..46650670,25	MCF-7	breast:
8	chr1:46645693..46647679-chr1:46664615..46667608,2	K562	blood:
9	chr1:46593944..46606364-chr1:46632700..46654752,92	MCF-7	breast:
10	chr1:46634262..46636688-chr1:46646311..46648808,2	MCF-7	breast:
11	chr1:46646028..46646908-chr1:46813526..46814026,2	K562	blood:
12	chr1:46534589..46536956-chr1:46645759..46648288,3	K562	blood:
13	chr1:46636220..46637897-chr1:46645659..46648862,3	MCF-7	breast:
14	chr1:46643862..46647366-chr1:46664036..46667027,3	K562	blood:
15	chr1:46500117..46505906-chr1:46642218..46647717,9	K562	blood:
16	chr1:46645259..46646856-chr1:46688566..46690033,15	K562	blood:
17	chr1:46638980..46642595-chr1:46645721..46649189,9	MCF-7	breast:
18	chr1:46645973..46650649-chr1:46685566..46691437,5	MCF-7	breast:
19	chr1:46505537..46508242-chr1:46645160..46646732,2	MCF-7	breast:
20	chr1:46645371..46647493-chr1:46686885..46689393,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000085998	Chromatin interaction
ENSG00000117472	Chromatin interaction
ENSG00000117461	Chromatin interaction
ENSG00000227857	Chromatin interaction
ENSG00000250719	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59843477	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59869626	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60794562	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	72 gene(s)	inside rSNPs	diseases
5	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1006530	chr1:46544842-46655484	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv534949	chr1:46544842-46655484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46637800-46649600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:46639400-46653800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:46639600-46652800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:46640600-46648800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:46640800-46656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:46641000-46648600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:46641200-46647200	Weak transcription	HSMM	muscle
8	chr1:46641200-46647400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:46641200-46647600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:46641200-46648800	Weak transcription	HSMMtube	muscle
11	chr1:46641200-46649000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:46641400-46648600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:46642200-46646800	Weak transcription	Spleen	Spleen
14	chr1:46642200-46648400	Weak transcription	Left Ventricle	heart
15	chr1:46642400-46648800	Weak transcription	Right Atrium	heart
16	chr1:46642400-46648800	Weak transcription	Right Ventricle	heart
17	chr1:46644400-46648400	Weak transcription	Psoas Muscle	Psoas
18	chr1:46644800-46651400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:46645000-46647600	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr1:46645000-46648000	Flanking Active TSS	Hela-S3	cervix
21	chr1:46645000-46651400	Enhancers	Fetal Thymus	thymus
22	chr1:46645200-46648800	Active TSS	Rectal Smooth Muscle	rectum
23	chr1:46645200-46649800	Enhancers	Placenta	Placenta
24	chr1:46645200-46650200	Enhancers	Fetal Muscle Trunk	muscle
25	chr1:46645200-46651400	Enhancers	Pancreas	Pancrea
26	chr1:46645200-46657800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:46645400-46647000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:46645400-46647200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:46645400-46647200	Weak transcription	NH-A	brain
30	chr1:46645400-46647800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:46645400-46647800	Flanking Active TSS	NHEK	skin
32	chr1:46645400-46648800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:46645400-46649000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:46645400-46649200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:46645400-46649600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:46645400-46650600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:46645400-46652200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:46645600-46647000	Weak transcription	Osteobl	bone
39	chr1:46645600-46647200	Weak transcription	Fetal Lung	lung
40	chr1:46645600-46647200	Weak transcription	Thymus	Thymus
41	chr1:46645600-46648000	Flanking Active TSS	HMEC	breast
42	chr1:46645600-46648400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:46645600-46648800	Weak transcription	Brain Anterior Caudate	brain
44	chr1:46645600-46649000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:46645600-46649200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:46645600-46649600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:46645600-46650400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:46645600-46650400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:46645600-46650800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:46645600-46652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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