Variant report

Variant	rs12650911
Chromosome Location	chr4:6901724-6901725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:6891499..6893475-chr4:6901375..6904358,2	K562	blood:
2	chr4:6900593..6906797-chr4:6907719..6912652,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12508671	0.92[ASN][1000 genomes]
rs12512504	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12650974	0.92[ASN][1000 genomes]
rs34465054	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56354420	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4216	chr4:6876592-6915629	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6894600-6903000	Weak transcription	HSMM	muscle
2	chr4:6894600-6903600	Weak transcription	Right Atrium	heart
3	chr4:6895800-6901800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:6896800-6906200	Weak transcription	Liver	Liver
5	chr4:6896800-6909200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:6898000-6909600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:6898400-6902200	Weak transcription	K562	blood
8	chr4:6899600-6903200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:6900400-6903200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr4:6900600-6901800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:6900600-6901800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:6900600-6901800	Enhancers	Fetal Thymus	thymus
13	chr4:6900600-6902200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:6900600-6902200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:6900600-6902200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:6900600-6902200	Enhancers	GM12878-XiMat	blood
17	chr4:6900600-6902400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr4:6900600-6902400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr4:6900600-6902600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr4:6900600-6902800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:6900600-6902800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:6900600-6902800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr4:6900600-6902800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr4:6900600-6905800	Enhancers	HepG2	liver
25	chr4:6901200-6901800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:6901600-6902200	Enhancers	Primary T cells from cord blood	blood
27	chr4:6901600-6902400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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