Variant report

Variant	rs142608314
Chromosome Location	chr3:99629999-99630000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99629219..99631187-chr3:99636036..99638648,2	MCF-7	breast:
2	chr3:99624361..99628142-chr3:99629982..99633873,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv3324951	chr3:99626762-99631260	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3505014	chr3:99628037-99630635	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv988265	chr3:99628303-99630006	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv3358022	chr3:99628309-99630115	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3400622	chr3:99629612-99630481	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99600800-99638600	Weak transcription	Left Ventricle	heart
2	chr3:99604600-99648200	Weak transcription	Primary T cells from cord blood	blood
3	chr3:99616000-99631200	Weak transcription	Primary B cells from cord blood	blood
4	chr3:99619600-99644400	Weak transcription	Right Ventricle	heart
5	chr3:99620000-99638600	Weak transcription	Small Intestine	intestine
6	chr3:99621200-99638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:99625000-99632800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:99625000-99639400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:99626200-99630000	Enhancers	HepG2	liver
10	chr3:99626800-99631200	Enhancers	NHEK	skin
11	chr3:99627200-99630000	Enhancers	Hela-S3	cervix
12	chr3:99627200-99630600	Enhancers	Stomach Mucosa	stomach
13	chr3:99627200-99638600	Weak transcription	K562	blood
14	chr3:99627800-99631200	Enhancers	HMEC	breast
15	chr3:99628000-99630600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:99628000-99631200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:99628200-99630400	Weak transcription	Fetal Kidney	kidney
18	chr3:99628200-99630600	Enhancers	Osteobl	bone
19	chr3:99628400-99630600	Enhancers	NH-A	brain
20	chr3:99628400-99630800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:99628400-99630800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:99628400-99631400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:99628600-99630000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:99628600-99630000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:99628600-99630000	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:99628600-99630000	Enhancers	HUVEC	blood vessel
27	chr3:99628600-99630400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:99628600-99630600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:99628600-99630600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:99628600-99630800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:99628600-99631400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:99628800-99630000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:99629000-99639400	Weak transcription	HSMM	muscle
34	chr3:99629200-99630600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:99629200-99630600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:99629400-99630800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:99629400-99631200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr3:99629600-99630000	Enhancers	HSMMtube	muscle
39	chr3:99629600-99630400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:99629600-99630600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr3:99629600-99630800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:99629800-99630000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr3:99629800-99630000	Enhancers	Psoas Muscle	Psoas
44	chr3:99629800-99630400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr3:99629800-99630400	Enhancers	Stomach Smooth Muscle	stomach
46	chr3:99629800-99630600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:99629800-99630600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr3:99629800-99630600	Enhancers	Fetal Muscle Leg	muscle
49	chr3:99629800-99630800	Enhancers	A549	lung

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