Variant report

Variant	rs4310631
Chromosome Location	chr11:120440360-120440361
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	chr11:120439418..120443663-chr11:120444829..120446935,3	K562	blood:

Variant related genes	Relation type
ENSG00000149403	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10892587	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11217918	0.83[YRI][hapmap]
rs12279396	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs12574365	0.87[AFR][1000 genomes]
rs1320718	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1320720	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2248540	0.84[ASN][1000 genomes]
rs4272790	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4278519	0.84[YRI][hapmap]
rs4298914	0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs4363614	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4447186	0.81[YRI][hapmap]
rs4938817	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7929781	0.85[AFR][1000 genomes]
rs7950360	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1052932	chr11:120406628-120442955	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120436800-120444800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:120437200-120445600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:120437200-120449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:120437200-120468000	Weak transcription	Right Atrium	heart
5	chr11:120437400-120441200	Weak transcription	Brain Angular Gyrus	brain
6	chr11:120437400-120443200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:120438400-120441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:120438800-120440800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:120439800-120440400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:120439800-120440400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:120439800-120440400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:120439800-120440600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:120439800-120440800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:120439800-120441200	Enhancers	Brain Cingulate Gyrus	brain
15	chr11:120439800-120441400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:120440000-120440400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:120440200-120440600	Enhancers	Brain Substantia Nigra	brain
18	chr11:120440200-120440600	Enhancers	Fetal Brain Female	brain
19	chr11:120440200-120440800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:120440200-120440800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr11:120440200-120441200	Enhancers	Brain Germinal Matrix	brain
22	chr11:120440200-120441600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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