Variant report

Variant	rs839811
Chromosome Location	chr1:77674430-77674431
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	chr1:77674234..77675786-chr1:77815270..77816932,2	K562	blood:
2	chr1:77673903..77675950-chr1:77678224..77680465,2	K562	blood:

Variant related genes	Relation type
ENSG00000233099	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1098123	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1098127	0.92[AFR][1000 genomes]
rs1779167	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653468	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653470	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2799569	0.92[AFR][1000 genomes]
rs7546997	1.00[YRI][hapmap]
rs839806	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs839812	0.82[YRI][hapmap]
rs839817	0.96[AFR][1000 genomes]
rs839819	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs839833	0.82[YRI][hapmap]
rs839837	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs839839	0.86[AFR][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	nsv1006887	chr1:77566348-77698128	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv520629	chr1:77584846-77695854	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv525188	chr1:77655651-77695854	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77626000-77684200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:77626800-77674800	Weak transcription	Ovary	ovary
3	chr1:77626800-77676200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:77648400-77684000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:77649000-77679800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:77650800-77684200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:77652600-77683400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:77655200-77680400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:77655200-77684000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:77655600-77683200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:77657400-77680000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:77657400-77681200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:77659200-77683200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:77661200-77676400	Weak transcription	Left Ventricle	heart
15	chr1:77666000-77679800	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:77666800-77683400	Weak transcription	NHLF	lung
17	chr1:77670200-77680600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:77670200-77683800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:77670200-77684000	Weak transcription	Adipose Nuclei	Adipose
20	chr1:77671200-77683200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:77671800-77683200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:77671800-77683200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:77671800-77684200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:77672000-77681400	Weak transcription	Primary T cells from cord blood	blood
25	chr1:77672000-77683200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:77672000-77684000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:77672000-77684200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:77672000-77684200	Weak transcription	Primary B cells from cord blood	blood
29	chr1:77672600-77684200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:77673200-77683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:77673600-77684200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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