Variant report

Variant	rs17624491
Chromosome Location	chr7:140705670-140705671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:140705661-140705747	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:140704276-140705859	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140701510..140704472-chr7:140705422..140707944,2	MCF-7	breast:
2	chr7:140700885..140703018-chr7:140705505..140708464,2	MCF-7	breast:
3	chr7:140705059..140707957-chr7:140712548..140716287,5	K562	blood:

Variant related genes	Relation type
ENSG00000273081	TF binding region
ENSG00000090263	Chromatin interaction

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

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

rs_ID	r²[population]
rs2159474	1.00[GIH][hapmap]
rs55897704	1.00[ASN][1000 genomes]
rs6970891	1.00[GIH][hapmap]
rs6977964	1.00[GIH][hapmap]
rs73165461	1.00[ASN][1000 genomes]
rs73165464	1.00[ASN][1000 genomes]
rs73167414	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140698600-140713000	Weak transcription	Psoas Muscle	Psoas
2	chr7:140699600-140713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:140701000-140706600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:140701400-140713400	Weak transcription	NHLF	lung
5	chr7:140702000-140707400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:140702000-140709200	Weak transcription	Fetal Kidney	kidney
7	chr7:140702800-140713200	Weak transcription	HSMMtube	muscle
8	chr7:140703200-140705800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:140703200-140709400	Weak transcription	HSMM	muscle
10	chr7:140703200-140713800	Weak transcription	Stomach Mucosa	stomach
11	chr7:140703400-140705800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:140703400-140705800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:140703400-140706000	Weak transcription	K562	blood
14	chr7:140703400-140713800	Weak transcription	Gastric	stomach
15	chr7:140703600-140706000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:140703600-140706000	Weak transcription	HMEC	breast
17	chr7:140703600-140706200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:140703600-140706600	Weak transcription	Right Ventricle	heart
19	chr7:140703600-140710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:140703600-140713800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:140703600-140713800	Weak transcription	Lung	lung
22	chr7:140703800-140705800	Weak transcription	Pancreas	Pancrea
23	chr7:140703800-140707200	Weak transcription	Spleen	Spleen
24	chr7:140703800-140707400	Weak transcription	Fetal Intestine Small	intestine
25	chr7:140703800-140707600	Weak transcription	HepG2	liver
26	chr7:140703800-140709200	Weak transcription	Osteobl	bone
27	chr7:140704000-140705800	Weak transcription	Primary B cells from cord blood	blood
28	chr7:140704000-140705800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:140704000-140705800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:140704000-140705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:140704000-140705800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:140704000-140705800	Weak transcription	GM12878-XiMat	blood
33	chr7:140704000-140713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:140704200-140705800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:140704200-140705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:140704200-140705800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:140704200-140705800	Weak transcription	Fetal Thymus	thymus
38	chr7:140704200-140705800	Weak transcription	Thymus	Thymus
39	chr7:140704200-140705800	Weak transcription	A549	lung
40	chr7:140704200-140706000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:140704200-140707000	Weak transcription	Ovary	ovary
42	chr7:140704200-140708200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:140704400-140706400	Weak transcription	Esophagus	oesophagus
44	chr7:140704400-140706400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:140704400-140706600	Weak transcription	Fetal Brain Male	brain
46	chr7:140704400-140707200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:140704400-140711400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:140704600-140706000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:140704800-140706400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:140704800-140706600	Weak transcription	Fetal Stomach	stomach

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