Variant report

Variant	rs2189963
Chromosome Location	chr7:70031184-70031185
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70029430..70032358-chr7:70034724..70037517,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10234796	0.83[ASN][1000 genomes]
rs12531840	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12538714	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17491493	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189964	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2866715	0.81[ASN][1000 genomes]
rs4236238	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4492249	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4717533	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4717534	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772938	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740114	0.84[AMR][1000 genomes]
rs757726	0.83[AMR][1000 genomes]
rs886661	0.81[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	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70012600-70036800	Weak transcription	Fetal Stomach	stomach
2	chr7:70016000-70033600	Weak transcription	Ovary	ovary
3	chr7:70018600-70033800	Weak transcription	Fetal Brain Male	brain
4	chr7:70020000-70036600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:70023600-70038000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:70024000-70046400	Weak transcription	Primary B cells from cord blood	blood
7	chr7:70025200-70033600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:70025400-70033600	Weak transcription	Pancreas	Pancrea
9	chr7:70025400-70035600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:70027600-70039400	Weak transcription	Brain Angular Gyrus	brain
11	chr7:70029600-70031200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:70030200-70031200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:70030200-70032200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:70030400-70031200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:70030400-70031200	Enhancers	Brain Hippocampus Middle	brain
16	chr7:70030400-70031200	Enhancers	Brain Substantia Nigra	brain
17	chr7:70030400-70031200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:70030400-70031400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:70030400-70033600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:70030600-70031200	Enhancers	Brain Anterior Caudate	brain
21	chr7:70030800-70031200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:70030800-70031200	Enhancers	Adipose Nuclei	Adipose
23	chr7:70030800-70031200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr7:70030800-70031200	Enhancers	Stomach Mucosa	stomach
25	chr7:70030800-70031600	Enhancers	Fetal Kidney	kidney
26	chr7:70030800-70032200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:70030800-70034000	Weak transcription	Gastric	stomach
28	chr7:70031000-70031200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:70031000-70031200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:70031000-70031200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr7:70031000-70031200	Enhancers	Small Intestine	intestine
32	chr7:70031000-70031200	Enhancers	NHEK	skin
33	chr7:70031000-70036600	Enhancers	Liver	Liver

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