Variant report

Variant	rs7008940
Chromosome Location	chr8:6344654-6344655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6326969..6329620-chr8:6343917..6345900,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17077117	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17077131	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2916732	1.00[AMR][1000 genomes]
rs2920680	1.00[AMR][1000 genomes]
rs2979661	1.00[AMR][1000 genomes]
rs56657460	1.00[AMR][1000 genomes]
rs56792149	1.00[AMR][1000 genomes]
rs58199046	1.00[AMR][1000 genomes]
rs58961878	1.00[AMR][1000 genomes]
rs59019374	1.00[AMR][1000 genomes]
rs59421608	1.00[AMR][1000 genomes]
rs60525187	1.00[AMR][1000 genomes]
rs60964326	1.00[AMR][1000 genomes]
rs61679839	1.00[AMR][1000 genomes]
rs7000599	0.87[AFR][1000 genomes]
rs7005212	1.00[AMR][1000 genomes]
rs73518736	1.00[AMR][1000 genomes]
rs73518745	1.00[AMR][1000 genomes]
rs73518749	1.00[AMR][1000 genomes]
rs73518763	1.00[AMR][1000 genomes]
rs73518772	1.00[AMR][1000 genomes]
rs73518773	1.00[AMR][1000 genomes]
rs73518778	1.00[AMR][1000 genomes]
rs73520640	1.00[AMR][1000 genomes]
rs73520650	1.00[AMR][1000 genomes]
rs73520652	1.00[AMR][1000 genomes]
rs73520659	1.00[AMR][1000 genomes]
rs73520661	1.00[AMR][1000 genomes]
rs73661753	1.00[AMR][1000 genomes]

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	nsv482828	chr8:6182711-6355710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv890055	chr8:6237397-6351252	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:95 , 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	chr8:6316400-6345600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:6322000-6346800	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:6325800-6374400	Weak transcription	K562	blood
7	chr8:6331400-6345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:6335000-6345200	Weak transcription	Ovary	ovary
9	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:6337800-6347600	Strong transcription	Primary T cells from cord blood	blood
11	chr8:6338800-6347600	Strong transcription	Fetal Thymus	thymus
12	chr8:6338800-6360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:6338800-6360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:6338800-6369600	Weak transcription	Spleen	Spleen
15	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
16	chr8:6339800-6360400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:6340000-6360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:6340400-6347600	Weak transcription	HepG2	liver
19	chr8:6340400-6371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:6340600-6345000	Weak transcription	Liver	Liver
21	chr8:6340800-6355400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr8:6340800-6360200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:6340800-6360400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:6340800-6371800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:6341000-6344800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:6341000-6345200	Weak transcription	Placenta	Placenta
27	chr8:6341000-6347600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:6341000-6360200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:6341000-6360600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:6341000-6372000	Weak transcription	A549	lung
31	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
32	chr8:6341200-6345600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:6341200-6347000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:6341200-6348200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:6341200-6354800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:6341200-6360400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:6341200-6360400	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:6341200-6360800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:6341200-6369400	Weak transcription	Primary B cells from cord blood	blood
40	chr8:6341200-6371200	Weak transcription	Fetal Brain Female	brain
41	chr8:6341400-6347400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr8:6341400-6363600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:6341800-6346000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr8:6341800-6360600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:6342000-6360400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:6342200-6352200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:6342400-6344800	Weak transcription	Fetal Intestine Small	intestine
48	chr8:6342400-6345000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:6342400-6345400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:6342400-6345600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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