Variant report

Variant	rs184292152
Chromosome Location	chr7:140562082-140562083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140555134..140561473-chr7:140561764..140565765,7	K562	blood:
2	chr7:140559226..140564238-chr7:140566941..140572115,8	K562	blood:
3	chr7:140561409..140564479-chr7:140621368..140624778,3	K562	blood:
4	chr7:140560224..140564238-chr7:140566941..140570656,4	K562	blood:
5	chr7:140555537..140558723-chr7:140560485..140562343,3	K562	blood:

Variant related genes	Relation type
ENSG00000157764	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv518139	chr7:140512661-140622355	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1024264	chr7:140539039-140576522	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1027576	chr7:140539039-140576935	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv1030989	chr7:140547011-140569821	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv1018200	chr7:140547011-140576522	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv1022502	chr7:140547011-140576935	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv1017485	chr7:140560822-140576522	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv1026995	chr7:140560822-140576935	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:140511000-140563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:140524400-140567800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:140525200-140567400	Weak transcription	Right Ventricle	heart
5	chr7:140527600-140573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:140528600-140563400	Weak transcription	Esophagus	oesophagus
7	chr7:140530400-140564800	Weak transcription	Aorta	Aorta
8	chr7:140530600-140573200	Weak transcription	Gastric	stomach
9	chr7:140534600-140567600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:140534600-140570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:140546000-140567600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:140546600-140563200	Weak transcription	K562	blood
13	chr7:140546600-140567200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:140547000-140564600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:140547000-140573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:140547200-140567600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:140547200-140567600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:140547200-140573200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:140547200-140573400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:140547200-140582400	Weak transcription	Fetal Stomach	stomach
21	chr7:140547400-140563400	Weak transcription	Fetal Intestine Small	intestine
22	chr7:140547400-140572400	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:140547600-140563400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:140547800-140563400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:140547800-140567600	Weak transcription	Thymus	Thymus
26	chr7:140548000-140564600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:140548200-140563600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:140548200-140576400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:140549000-140563200	Weak transcription	Primary T cells from cord blood	blood
30	chr7:140549000-140564000	Weak transcription	Fetal Brain Female	brain
31	chr7:140549000-140567600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:140549000-140567600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:140549000-140567600	Weak transcription	Liver	Liver
34	chr7:140549000-140594400	Weak transcription	Fetal Thymus	thymus
35	chr7:140549200-140563800	Weak transcription	Dnd41	blood
36	chr7:140549200-140567600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:140549200-140569000	Weak transcription	Fetal Intestine Large	intestine
38	chr7:140549200-140569800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:140549400-140579000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:140549600-140572400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:140551000-140563400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:140552200-140567600	Weak transcription	Psoas Muscle	Psoas
43	chr7:140552200-140573200	Weak transcription	Left Ventricle	heart
44	chr7:140557000-140567600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:140557200-140563800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:140557200-140574200	Weak transcription	Fetal Lung	lung
47	chr7:140557400-140567200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:140557400-140567600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:140560600-140576200	Weak transcription	NH-A	brain
50	chr7:140561000-140566800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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