Variant report

Variant	rs1670745
Chromosome Location	chr8:130963259-130963260
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	chr8:130961662..130964627-chr8:130966336..130969017,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16904179	0.86[CHD][hapmap];0.84[ASN][1000 genomes]
rs4733750	0.81[CHD][hapmap]
rs837226	0.85[CEU][hapmap];0.93[TSI][hapmap]

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:74 , 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	chr8:130952800-130965200	Weak transcription	Colonic Mucosa	Colon
4	chr8:130952800-130965400	Weak transcription	Gastric	stomach
5	chr8:130952800-130965400	Weak transcription	Pancreas	Pancrea
6	chr8:130952800-130965400	Weak transcription	Psoas Muscle	Psoas
7	chr8:130952800-130965400	Weak transcription	HSMMtube	muscle
8	chr8:130952800-130967800	Weak transcription	Right Ventricle	heart
9	chr8:130952800-130981400	Weak transcription	Left Ventricle	heart
10	chr8:130953000-130965000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:130953000-130967400	Weak transcription	Fetal Stomach	stomach
12	chr8:130953000-130980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:130953200-130964800	Weak transcription	Brain Substantia Nigra	brain
14	chr8:130953200-130968800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:130953200-130969200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:130953200-130970400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:130953200-130974800	Weak transcription	Fetal Brain Female	brain
18	chr8:130953400-130965200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:130953400-130965200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:130953400-130968800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:130953400-130969000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:130953400-130969400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:130953400-130970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:130953400-130982000	Weak transcription	Hela-S3	cervix
25	chr8:130953600-130975400	Weak transcription	HMEC	breast
26	chr8:130953600-130980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:130958200-130965400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:130958200-130965600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:130958600-130965400	Weak transcription	Placenta	Placenta
30	chr8:130958800-130965000	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:130959000-130964800	Weak transcription	Brain Anterior Caudate	brain
32	chr8:130959200-130979400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:130959200-130982200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:130959200-130983400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:130959400-130965400	Weak transcription	Fetal Intestine Small	intestine
36	chr8:130959600-130969400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:130959800-130965600	Weak transcription	Fetal Intestine Large	intestine
38	chr8:130960200-130965600	Weak transcription	K562	blood
39	chr8:130960600-130969400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:130960800-130965000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:130960800-130965200	Weak transcription	Brain Angular Gyrus	brain
42	chr8:130960800-130965200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:130960800-130965200	Weak transcription	A549	lung
44	chr8:130960800-130965400	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:130960800-130965600	Weak transcription	Adipose Nuclei	Adipose
46	chr8:130961000-130964800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:130961000-130965200	Weak transcription	Spleen	Spleen
48	chr8:130961000-130965600	Weak transcription	Esophagus	oesophagus
49	chr8:130961000-130968800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:130961000-130970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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