Variant report

Variant	rs187030546
Chromosome Location	chr7:66192384-66192385
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66192001..66196955-chr7:66201177..66204851,5	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv3385090	chr7:66146376-66205022	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3401338	chr7:66147493-66206298	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv971490	chr7:66192193-66212423	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66149000-66199600	Weak transcription	Thymus	Thymus
2	chr7:66162600-66192400	Weak transcription	NH-A	brain
3	chr7:66162600-66196800	Weak transcription	Right Ventricle	heart
4	chr7:66165400-66204600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:66165800-66197000	Weak transcription	Right Atrium	heart
6	chr7:66176400-66204600	Weak transcription	Colonic Mucosa	Colon
7	chr7:66177600-66193600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:66178600-66200400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:66178800-66193600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:66178800-66197000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:66179000-66197200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:66179200-66200600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:66179400-66199800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:66179600-66204600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:66180800-66193600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:66181600-66193600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:66181600-66196000	Weak transcription	Ovary	ovary
18	chr7:66181600-66202000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:66182600-66199800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:66182800-66205000	Weak transcription	Gastric	stomach
21	chr7:66185400-66197600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:66188400-66196800	Weak transcription	Adipose Nuclei	Adipose
23	chr7:66188400-66201800	Weak transcription	Fetal Brain Male	brain
24	chr7:66189400-66197000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:66189600-66193600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:66189800-66196800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:66190000-66193800	Strong transcription	Fetal Intestine Small	intestine
28	chr7:66190000-66194000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:66190000-66200400	Weak transcription	HepG2	liver
30	chr7:66190000-66201200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:66190200-66198800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:66190400-66196200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:66190400-66197600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:66190400-66204600	Weak transcription	Stomach Mucosa	stomach
35	chr7:66190600-66193600	Strong transcription	Fetal Stomach	stomach
36	chr7:66190600-66200200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:66190600-66201200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:66190800-66194200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:66190800-66200200	Weak transcription	Brain Anterior Caudate	brain
40	chr7:66190800-66200400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:66190800-66200600	Weak transcription	HSMM	muscle
42	chr7:66190800-66204400	Weak transcription	Fetal Heart	heart
43	chr7:66190800-66204600	Weak transcription	NHEK	skin
44	chr7:66191000-66193400	Weak transcription	Fetal Kidney	kidney
45	chr7:66191000-66193600	Weak transcription	Spleen	Spleen
46	chr7:66191000-66197200	Weak transcription	GM12878-XiMat	blood
47	chr7:66191000-66197200	Weak transcription	HSMMtube	muscle
48	chr7:66191000-66199600	Weak transcription	Osteobl	bone
49	chr7:66191000-66199800	Weak transcription	Liver	Liver
50	chr7:66191000-66200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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