Variant report

Variant	rs1796025
Chromosome Location	chr2:97630362-97630363
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97533938..97536745-chr2:97629223..97631782,3	MCF-7	breast:
2	chr2:97480273..97481938-chr2:97629439..97631749,2	MCF-7	breast:
3	chr2:97623151..97625255-chr2:97629201..97631510,2	MCF-7	breast:
4	chr2:97523891..97526324-chr2:97628583..97631770,4	MCF-7	breast:
5	chr2:97621466..97624037-chr2:97629014..97631871,2	K562	blood:
6	chr2:97498723..97500486-chr2:97628918..97630567,2	MCF-7	breast:
7	chr2:97630118..97631004-chr2:97725358..97726177,2	MCF-7	breast:
8	chr2:97480920..97483303-chr2:97630288..97633149,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204670	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000252845	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11164113	0.80[CHB][hapmap]
rs1148592	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1148595	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1257006	1.00[JPT][hapmap]
rs1257010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1257013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1257021	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1257022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1257026	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1257084	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1257089	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1257101	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1257117	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1669760	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1796043	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2443873	0.93[JPT][hapmap]
rs2463904	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7569432	0.86[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv32727	chr2:97616488-97643975	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1796025	UNQ2430	cis	multi-tissue	Pritchard

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97620800-97643600	Weak transcription	Right Atrium	heart
2	chr2:97625600-97630600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:97625600-97631200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:97625600-97634200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:97626000-97631000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:97626200-97630400	Enhancers	Dnd41	blood
7	chr2:97626200-97635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:97626600-97631800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:97626600-97631800	Weak transcription	Brain Substantia Nigra	brain
10	chr2:97626800-97633000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:97628800-97630600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr2:97628800-97631200	Enhancers	Primary T cells from cord blood	blood
13	chr2:97628800-97632200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:97629000-97630600	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:97629000-97631400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:97629200-97630400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:97629200-97630800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:97629200-97630800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:97629200-97633400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:97629200-97634200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:97629400-97632200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:97629400-97633000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:97629400-97633400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:97629400-97633600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:97629600-97630600	Enhancers	Fetal Intestine Small	intestine
26	chr2:97629600-97633200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:97629800-97630600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:97629800-97632200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:97630000-97630600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:97630000-97630600	Enhancers	Colonic Mucosa	Colon
31	chr2:97630000-97630800	Enhancers	Fetal Intestine Large	intestine
32	chr2:97630200-97630400	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:97630200-97631600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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