Variant report

Variant	rs7601478
Chromosome Location	chr2:10368871-10368872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10343616..10346370-chr2:10368491..10370304,2	MCF-7	breast:
2	chr2:10360606..10364064-chr2:10366598..10369959,4	K562	blood:
3	chr2:10367671..10369522-chr2:10589318..10591313,2	K562	blood:
4	chr2:10367576..10370568-chr2:10435265..10436937,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257135	Chromatin interaction
ENSG00000206898	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11886933	1.00[ASN][1000 genomes]
rs1985634	0.86[AMR][1000 genomes]
rs35927125	1.00[ASN][1000 genomes]
rs4444493	1.00[ASN][1000 genomes]
rs4669559	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55902618	1.00[ASN][1000 genomes]
rs56277911	1.00[ASN][1000 genomes]
rs57031421	1.00[ASN][1000 genomes]
rs6716517	1.00[ASN][1000 genomes]
rs6744258	1.00[ASN][1000 genomes]
rs72542775	1.00[ASN][1000 genomes]
rs72542787	1.00[ASN][1000 genomes]
rs72771623	1.00[ASN][1000 genomes]
rs72771625	1.00[ASN][1000 genomes]
rs7586930	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591484	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv34981	chr2:10341468-10384302	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv35171	chr2:10341468-10384302	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756904	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv2759024	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv873637	chr2:10349858-10381434	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv962058	chr2:10350771-10376962	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv873638	chr2:10351852-10381434	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv9347	chr2:10367487-10369921	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10350400-10375200	Weak transcription	Right Atrium	heart
2	chr2:10362000-10369600	Weak transcription	Right Ventricle	heart
3	chr2:10362800-10375000	Weak transcription	Brain Germinal Matrix	brain
4	chr2:10363800-10370400	Weak transcription	Spleen	Spleen
5	chr2:10364200-10369200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:10364600-10370000	Enhancers	Fetal Intestine Small	intestine
7	chr2:10364600-10371000	Enhancers	Fetal Intestine Large	intestine
8	chr2:10364800-10369200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:10365000-10369800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:10365000-10370200	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:10365400-10370800	Enhancers	Stomach Mucosa	stomach
12	chr2:10365600-10369800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:10366000-10370600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:10366000-10373400	Weak transcription	Fetal Kidney	kidney
15	chr2:10366600-10369000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr2:10367600-10369200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:10367600-10369400	Enhancers	Pancreas	Pancrea
18	chr2:10367800-10373400	Weak transcription	Gastric	stomach
19	chr2:10368000-10369400	Weak transcription	Small Intestine	intestine
20	chr2:10368400-10369000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:10368600-10369000	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr2:10368600-10370000	Enhancers	Left Ventricle	heart
23	chr2:10368800-10369000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:10368800-10369200	Enhancers	Liver	Liver

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