Variant report

Variant	rs59881596
Chromosome Location	chr2:97630963-97630964
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr2:97617405..97618002-chr2:97630419..97631215,2	MCF-7	breast:
4	chr2:97623151..97625255-chr2:97629201..97631510,2	MCF-7	breast:
5	chr2:97523891..97526324-chr2:97628583..97631770,4	MCF-7	breast:
6	chr2:97617399..97617905-chr2:97630560..97631215,2	MCF-7	breast:
7	chr2:97621466..97624037-chr2:97629014..97631871,2	K562	blood:
8	chr2:97526912..97529803-chr2:97630572..97632244,2	MCF-7	breast:
9	chr2:97630118..97631004-chr2:97725358..97726177,2	MCF-7	breast:
10	chr2:97618220..97618797-chr2:97630393..97631020,2	MCF-7	breast:
11	chr2:97480920..97483303-chr2:97630288..97633149,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204670	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17119606	1.00[AMR][1000 genomes]
rs17119736	1.00[AMR][1000 genomes]
rs41530648	1.00[AMR][1000 genomes]
rs55806522	1.00[AMR][1000 genomes]
rs56984105	1.00[AMR][1000 genomes]
rs57454641	1.00[AMR][1000 genomes]
rs57505323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57993098	1.00[AMR][1000 genomes]
rs58219990	1.00[AMR][1000 genomes]
rs59057644	1.00[AMR][1000 genomes]
rs60242125	1.00[AMR][1000 genomes]
rs72941255	1.00[AMR][1000 genomes]
rs73960687	1.00[AMR][1000 genomes]
rs7593245	1.00[AMR][1000 genomes]

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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97620800-97643600	Weak transcription	Right Atrium	heart
2	chr2:97625600-97631200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:97625600-97634200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:97626000-97631000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:97626200-97635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:97626600-97631800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:97626600-97631800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:97626800-97633000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:97628800-97631200	Enhancers	Primary T cells from cord blood	blood
10	chr2:97628800-97632200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:97629000-97631400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:97629200-97633400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:97629200-97634200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:97629400-97632200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:97629400-97633000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:97629400-97633400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:97629400-97633600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:97629600-97633200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:97629800-97632200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:97630200-97631600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:97630600-97635600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:97630600-97635600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:97630600-97635600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:97630600-97635800	Weak transcription	Colonic Mucosa	Colon
25	chr2:97630600-97635800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:97630600-97636000	Weak transcription	Fetal Intestine Small	intestine
27	chr2:97630800-97631200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:97630800-97635600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:97630800-97636200	Weak transcription	Fetal Intestine Large	intestine

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