Variant report

Variant	rs11990038
Chromosome Location	chr8:6324508-6324509
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	chr8:6311610..6314385-chr8:6324095..6326791,2	K562	blood:

Variant related genes	Relation type
ENSG00000147316	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11986515	1.00[ASN][1000 genomes]
rs11987805	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11994936	0.84[YRI][hapmap]
rs1550691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17076872	0.85[YRI][hapmap]
rs17077121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17077123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17077139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs2440393	1.00[CEU][hapmap]
rs2440420	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2440431	1.00[CEU][hapmap]
rs2440445	1.00[ASN][1000 genomes]
rs2442487	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2442488	1.00[ASN][1000 genomes]
rs2442513	0.87[EUR][1000 genomes]
rs2515538	1.00[CEU][hapmap]
rs2515586	1.00[CEU][hapmap]
rs2916748	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2916749	0.84[YRI][hapmap]
rs2920673	0.83[AFR][1000 genomes]
rs2922812	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3020273	0.83[AFR][1000 genomes]
rs3020276	1.00[ASN][1000 genomes]
rs3021380	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7836207	1.00[CEU][hapmap]
rs894896	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs894897	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	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	nsv890056	chr8:6314486-6343727	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	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
13	nsv1023443	chr8:6319260-6332157	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:6287600-6344400	Weak transcription	Small Intestine	intestine
3	chr8:6301000-6338400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:6302800-6339800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:6303000-6325000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:6303000-6325200	Weak transcription	Pancreas	Pancrea
7	chr8:6303000-6338200	Weak transcription	Gastric	stomach
8	chr8:6303000-6338200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:6303000-6338400	Weak transcription	Colonic Mucosa	Colon
10	chr8:6303000-6338400	Weak transcription	Right Ventricle	heart
11	chr8:6303000-6339400	Weak transcription	Placenta	Placenta
12	chr8:6303200-6339400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:6303200-6339400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:6303200-6340000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:6303800-6338400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:6304000-6338000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:6304400-6360200	Weak transcription	Esophagus	oesophagus
18	chr8:6306200-6325400	Weak transcription	K562	blood
19	chr8:6306200-6328200	Weak transcription	Fetal Lung	lung
20	chr8:6308000-6330000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:6308000-6338400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:6308000-6372600	Weak transcription	HMEC	breast
23	chr8:6312200-6338200	Weak transcription	Liver	Liver
24	chr8:6313200-6338400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:6314400-6338200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:6314400-6339600	Weak transcription	Brain Angular Gyrus	brain
27	chr8:6316400-6345600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:6317600-6338400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:6318000-6338200	Weak transcription	Adipose Nuclei	Adipose
31	chr8:6318400-6339600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:6318600-6328200	Weak transcription	Dnd41	blood
33	chr8:6318600-6339600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:6318800-6334800	Weak transcription	NHDF-Ad	bronchial
35	chr8:6318800-6338400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:6319600-6338200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:6320600-6328800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:6321400-6334600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:6321400-6334600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:6321600-6339000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:6321800-6334600	Weak transcription	NH-A	brain
42	chr8:6321800-6338200	Weak transcription	Brain Substantia Nigra	brain
43	chr8:6321800-6338400	Weak transcription	Brain Anterior Caudate	brain
44	chr8:6321800-6342000	Weak transcription	Aorta	Aorta
45	chr8:6321800-6343800	Weak transcription	Hela-S3	cervix
46	chr8:6322000-6338200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:6322000-6340000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:6322000-6346800	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:6322200-6326000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:6322200-6332600	Weak transcription	Brain Hippocampus Middle	brain

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