Variant report

Variant	rs17144993
Chromosome Location	chr7:8246960-8246961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:8241054..8244106-chr7:8245458..8247962,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16872835	1.00[AMR][1000 genomes]
rs17145036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60467338	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949024	chr7:8176301-8522495	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1031226	chr7:8176311-8569811	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv538724	chr7:8176311-8569811	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv887492	chr7:8177689-8513927	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1026247	chr7:8178837-8527868	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv464305	chr7:8179655-8524707	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv606050	chr7:8179655-8524707	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv1020942	chr7:8179655-8524774	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv464307	chr7:8179846-8453313	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv606051	chr7:8179846-8453313	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034583	chr7:8180210-8527868	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv1030373	chr7:8184961-8527868	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv949082	chr7:8189594-8494386	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv948997	chr7:8189594-8522495	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv915625	chr7:8201631-8554402	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv1033563	chr7:8222805-8512632	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
20	nsv1024586	chr7:8243829-8490078	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
21	nsv538725	chr7:8243829-8490078	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8216400-8247200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:8217600-8254800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:8231000-8250800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:8231000-8252200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:8231200-8252400	Weak transcription	Stomach Mucosa	stomach
6	chr7:8231200-8257600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:8231400-8275200	Weak transcription	Esophagus	oesophagus
8	chr7:8238400-8253200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:8238600-8249200	Enhancers	Adipose Nuclei	Adipose
10	chr7:8241800-8250400	Weak transcription	Gastric	stomach
11	chr7:8241800-8252200	Weak transcription	Pancreas	Pancrea
12	chr7:8241800-8257800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:8242000-8253000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:8242000-8253800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:8242400-8250400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:8242600-8254000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:8242800-8253000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:8243400-8254600	Weak transcription	Fetal Intestine Large	intestine
19	chr7:8243600-8251000	Weak transcription	Lung	lung
20	chr7:8244800-8247000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:8245200-8251000	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:8245400-8247400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:8245400-8249800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:8245400-8250000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:8245600-8250000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:8245600-8253200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:8245600-8254600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:8245800-8251000	Weak transcription	Fetal Stomach	stomach
29	chr7:8245800-8251600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:8245800-8253600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:8246000-8248600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:8246000-8250400	Weak transcription	Left Ventricle	heart
33	chr7:8246000-8250400	Weak transcription	Right Ventricle	heart
34	chr7:8246000-8250400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr7:8246000-8251000	Weak transcription	Fetal Heart	heart
36	chr7:8246000-8253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:8246200-8249800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:8246400-8249800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:8246400-8250000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:8246400-8250200	Weak transcription	Fetal Intestine Small	intestine
41	chr7:8246400-8254200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:8246600-8249400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:8246600-8249600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:8246800-8247200	Enhancers	Brain Germinal Matrix	brain
45	chr7:8246800-8247400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr7:8246800-8247400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:8246800-8248200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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