Variant report

Variant	rs10216656
Chromosome Location	chr8:130965301-130965302
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	chr8:130963955..130966342-chr8:130980266..130982031,2	K562	blood:
2	chr8:130959510..130961740-chr8:130964129..130966017,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10104510	1.00[EUR][1000 genomes]
rs10104858	1.00[EUR][1000 genomes]
rs16904186	1.00[EUR][1000 genomes]
rs28532780	1.00[EUR][1000 genomes]
rs7013752	1.00[EUR][1000 genomes]
rs73405561	1.00[EUR][1000 genomes]
rs73405562	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130952600-130965600	Weak transcription	Aorta	Aorta
2	chr8:130952600-130965600	Weak transcription	Lung	lung
3	chr8:130952800-130965400	Weak transcription	Gastric	stomach
4	chr8:130952800-130965400	Weak transcription	Pancreas	Pancrea
5	chr8:130952800-130965400	Weak transcription	Psoas Muscle	Psoas
6	chr8:130952800-130965400	Weak transcription	HSMMtube	muscle
7	chr8:130952800-130967800	Weak transcription	Right Ventricle	heart
8	chr8:130952800-130981400	Weak transcription	Left Ventricle	heart
9	chr8:130953000-130967400	Weak transcription	Fetal Stomach	stomach
10	chr8:130953000-130980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:130953200-130968800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:130953200-130969200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:130953200-130970400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:130953200-130974800	Weak transcription	Fetal Brain Female	brain
15	chr8:130953400-130968800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:130953400-130969000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:130953400-130969400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:130953400-130970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:130953400-130982000	Weak transcription	Hela-S3	cervix
20	chr8:130953600-130975400	Weak transcription	HMEC	breast
21	chr8:130953600-130980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:130958200-130965400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:130958200-130965600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:130958600-130965400	Weak transcription	Placenta	Placenta
25	chr8:130959200-130979400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:130959200-130982200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:130959200-130983400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:130959400-130965400	Weak transcription	Fetal Intestine Small	intestine
29	chr8:130959600-130969400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:130959800-130965600	Weak transcription	Fetal Intestine Large	intestine
31	chr8:130960200-130965600	Weak transcription	K562	blood
32	chr8:130960600-130969400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:130960800-130965400	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:130960800-130965600	Weak transcription	Adipose Nuclei	Adipose
35	chr8:130961000-130965600	Weak transcription	Esophagus	oesophagus
36	chr8:130961000-130968800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:130961000-130970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:130961000-130977200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:130961200-130968800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:130961200-130969800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:130961400-130965400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:130961400-130965800	Weak transcription	Thymus	Thymus
43	chr8:130961400-130966000	Weak transcription	NHEK	skin
44	chr8:130961400-130970200	Weak transcription	Fetal Thymus	thymus
45	chr8:130961600-130965400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:130961800-130965600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:130962000-130969200	Weak transcription	Ovary	ovary
48	chr8:130962200-130966200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:130962800-130965600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:130962800-130968400	Strong transcription	Monocytes-CD14+_RO01746	blood

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