Variant report

Variant	rs2442476
Chromosome Location	chr8:6356157-6356158
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6350753..6353576-chr8:6355217..6356986,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17063434	1.00[CEU][hapmap]
rs17077313	1.00[CEU][hapmap]
rs1960369	1.00[CEU][hapmap]
rs2442473	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2442611	1.00[CEU][hapmap]
rs2442612	1.00[CEU][hapmap]
rs2442621	1.00[CEU][hapmap]
rs2442623	1.00[CEU][hapmap]
rs2442624	1.00[CEU][hapmap]
rs2442625	1.00[CEU][hapmap]
rs2442626	1.00[CEU][hapmap]
rs2442627	1.00[CEU][hapmap]
rs2442628	1.00[CEU][hapmap]
rs2515423	1.00[CEU][hapmap]
rs2515425	1.00[CEU][hapmap]
rs2515427	1.00[CEU][hapmap]
rs2515428	1.00[CEU][hapmap]
rs2515429	1.00[CEU][hapmap]
rs2515430	1.00[CEU][hapmap]
rs2515433	1.00[CEU][hapmap]
rs2515434	1.00[CEU][hapmap]
rs2515436	1.00[CEU][hapmap]
rs2515437	1.00[CEU][hapmap]
rs2515442	1.00[CEU][hapmap]
rs2515444	1.00[CEU][hapmap]
rs2515445	1.00[CEU][hapmap]
rs2515449	1.00[CEU][hapmap]
rs2515456	1.00[CEU][hapmap]
rs2515458	1.00[CEU][hapmap]
rs2515463	1.00[CEU][hapmap]
rs2515468	0.88[CEU][hapmap]
rs2515596	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2515597	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2922898	1.00[CEU][hapmap]
rs3020211	0.90[EUR][1000 genomes]
rs3020223	1.00[CEU][hapmap]
rs7835591	0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs963495	1.00[CEU][hapmap]
rs963496	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1025860	chr8:6328628-6360743	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv890058	chr8:6329510-6367302	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv1022895	chr8:6355213-6414874	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6304400-6360200	Weak transcription	Esophagus	oesophagus
2	chr8:6308000-6372600	Weak transcription	HMEC	breast
3	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:6325800-6374400	Weak transcription	K562	blood
5	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:6338800-6360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:6338800-6360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:6338800-6369600	Weak transcription	Spleen	Spleen
9	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
10	chr8:6339800-6360400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:6340000-6360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:6340400-6371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:6340800-6360200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:6340800-6360400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:6340800-6371800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:6341000-6360200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:6341000-6360600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:6341000-6372000	Weak transcription	A549	lung
19	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:6341200-6360400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:6341200-6360400	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:6341200-6360800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:6341200-6369400	Weak transcription	Primary B cells from cord blood	blood
24	chr8:6341200-6371200	Weak transcription	Fetal Brain Female	brain
25	chr8:6341400-6363600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:6341800-6360600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:6342000-6360400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:6342400-6357600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:6342400-6359200	Weak transcription	Left Ventricle	heart
30	chr8:6342400-6360200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:6342400-6360200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:6342400-6360200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:6342400-6360200	Weak transcription	Fetal Stomach	stomach
34	chr8:6342400-6360200	Weak transcription	Pancreas	Pancrea
35	chr8:6342400-6360400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:6342400-6360400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:6342400-6360400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:6342400-6360400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:6342400-6360400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:6342400-6360600	Weak transcription	Lung	lung
41	chr8:6342400-6365600	Weak transcription	Psoas Muscle	Psoas
42	chr8:6342400-6369600	Weak transcription	NHEK	skin
43	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:6342600-6360200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:6342800-6360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:6343400-6360400	Weak transcription	Thymus	Thymus
47	chr8:6344400-6360200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:6344600-6360200	Weak transcription	Adipose Nuclei	Adipose
49	chr8:6345200-6360400	Weak transcription	Fetal Intestine Large	intestine
50	chr8:6345400-6357400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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