Variant report

Variant	rs149819712
Chromosome Location	chr2:86970838-86970839
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	JUN	chr2:86970792-86970934	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86850257..86852408-chr2:86970682..86973822,3	MCF-7	breast:
2	chr2:86970428..86972701-chr2:86973505..86975478,2	MCF-7	breast:

Variant related genes	Relation type
RMND5A	TF binding region
ENSG00000153561	Chromatin interaction
ENSG00000239305	Chromatin interaction

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	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv961426	chr2:86970416-86974654	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86948800-86972600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:86949000-86979600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:86956800-86971200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:86961600-86971200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:86962200-86975400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:86962200-86977000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:86963600-86972400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:86965200-86978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:86966800-86977200	Weak transcription	Osteobl	bone
10	chr2:86967000-86971200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:86967600-86971400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:86968000-86971200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:86968200-86971200	Weak transcription	Liver	Liver
14	chr2:86968600-86971000	Weak transcription	Primary B cells from cord blood	blood
15	chr2:86968600-86972600	Weak transcription	Primary T cells from cord blood	blood
16	chr2:86968600-86974800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:86968600-86993000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:86968600-86997600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:86968800-86971200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:86968800-86971400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:86968800-86975000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:86968800-86977000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:86968800-86977000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:86968800-86978600	Weak transcription	Placenta	Placenta
25	chr2:86968800-86980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:86969000-86971200	Weak transcription	Lung	lung
27	chr2:86969000-86971200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:86969000-86974400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:86969000-86974600	Weak transcription	NHEK	skin
30	chr2:86969200-86971000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:86969200-86971400	Weak transcription	Pancreas	Pancrea
32	chr2:86969200-86975000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:86969200-86977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:86969200-86986400	Strong transcription	Fetal Thymus	thymus
35	chr2:86969200-86997800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:86969400-86971000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:86969400-86971200	Weak transcription	Spleen	Spleen
38	chr2:86969400-86971200	Weak transcription	GM12878-XiMat	blood
39	chr2:86969400-86971800	Weak transcription	Left Ventricle	heart
40	chr2:86969400-86979000	Weak transcription	Ovary	ovary
41	chr2:86969400-86984400	Weak transcription	Fetal Heart	heart
42	chr2:86969400-86997800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:86969600-86972400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:86969600-86972800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:86969600-86973800	Weak transcription	Stomach Mucosa	stomach
46	chr2:86969600-86974000	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:86969600-86974200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:86969600-86974600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:86969600-86977200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:86969600-86995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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