Variant report

Variant	rs550087385
Chromosome Location	chr7:140567575-140567576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140559226..140564238-chr7:140566941..140572115,8	K562	blood:
2	chr7:140560224..140564238-chr7:140566941..140570656,4	K562	blood:
3	chr7:140566130..140568402-chr7:140568584..140570185,2	MCF-7	breast:
4	chr7:140567539..140569746-chr7:140571900..140574839,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
11	nsv1029363	chr7:140567136-140594073	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	nsv1015486	chr7:140567340-140581429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 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	chr7:140524400-140567800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:140527600-140573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:140530600-140573200	Weak transcription	Gastric	stomach
5	chr7:140534600-140567600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:140534600-140570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:140546000-140567600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:140547000-140573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:140547200-140567600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:140547200-140567600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:140547200-140573200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:140547200-140573400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:140547200-140582400	Weak transcription	Fetal Stomach	stomach
14	chr7:140547400-140572400	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:140547800-140567600	Weak transcription	Thymus	Thymus
16	chr7:140548200-140576400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:140549000-140567600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:140549000-140567600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:140549000-140567600	Weak transcription	Liver	Liver
20	chr7:140549000-140594400	Weak transcription	Fetal Thymus	thymus
21	chr7:140549200-140567600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:140549200-140569000	Weak transcription	Fetal Intestine Large	intestine
23	chr7:140549200-140569800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr7:140549400-140579000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:140549600-140572400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:140552200-140567600	Weak transcription	Psoas Muscle	Psoas
27	chr7:140552200-140573200	Weak transcription	Left Ventricle	heart
28	chr7:140557000-140567600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:140557200-140574200	Weak transcription	Fetal Lung	lung
30	chr7:140557400-140567600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:140560600-140576200	Weak transcription	NH-A	brain
32	chr7:140561400-140573000	Weak transcription	Right Atrium	heart
33	chr7:140562000-140567600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:140562000-140576600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:140563600-140567800	Weak transcription	Esophagus	oesophagus
36	chr7:140563600-140571000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:140563600-140573200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:140563600-140576400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:140563600-140586000	Weak transcription	K562	blood
40	chr7:140564400-140567800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:140564400-140569600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:140564400-140569800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:140564800-140567800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:140564800-140569800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:140565200-140569800	Weak transcription	Fetal Intestine Small	intestine
46	chr7:140566600-140576400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:140566800-140571200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr7:140567200-140567800	Flanking Active TSS	GM12878-XiMat	blood
49	chr7:140567200-140568000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr7:140567200-140568400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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