Variant report

Variant	rs192039162
Chromosome Location	chr3:99600308-99600309
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99599836..99602681-chr3:99604247..99606316,2	K562	blood:
2	chr3:99591437..99593701-chr3:99599542..99601612,3	K562	blood:
3	chr3:99542264..99544347-chr3:99597790..99600681,3	K562	blood:
4	chr3:99596053..99600789-chr3:99601531..99605674,5	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv822194	chr3:99600260-99604375	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99595200-99602800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:99595400-99600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:99595400-99602800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:99595400-99603000	Weak transcription	Stomach Mucosa	stomach
5	chr3:99595400-99603400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:99595400-99603400	Weak transcription	Small Intestine	intestine
7	chr3:99595400-99608400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:99595600-99600400	Weak transcription	Left Ventricle	heart
9	chr3:99595600-99602600	Weak transcription	Fetal Intestine Large	intestine
10	chr3:99595600-99603200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:99595600-99607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:99595600-99612800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:99595800-99600400	Weak transcription	Ovary	ovary
14	chr3:99595800-99601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:99595800-99603200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:99596000-99603000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:99596000-99603200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:99596600-99614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:99596800-99600400	Weak transcription	Aorta	Aorta
20	chr3:99596800-99601000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:99596800-99602600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:99597000-99603400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:99597200-99602800	Weak transcription	K562	blood
24	chr3:99597200-99603000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:99597200-99603400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:99597200-99614200	Weak transcription	HMEC	breast
27	chr3:99597400-99602800	Weak transcription	NHEK	skin
28	chr3:99597800-99603400	Weak transcription	GM12878-XiMat	blood
29	chr3:99598600-99600600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr3:99599600-99600600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:99599600-99600800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:99599600-99601000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:99599800-99600400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:99599800-99600400	Enhancers	Fetal Intestine Small	intestine
35	chr3:99599800-99600600	Enhancers	Brain Anterior Caudate	brain
36	chr3:99599800-99600600	Enhancers	Brain Hippocampus Middle	brain
37	chr3:99599800-99600600	Enhancers	Fetal Muscle Leg	muscle
38	chr3:99599800-99600600	Enhancers	Right Atrium	heart
39	chr3:99599800-99600600	Enhancers	Spleen	Spleen
40	chr3:99599800-99601600	Enhancers	Colon Smooth Muscle	Colon
41	chr3:99600000-99600400	Enhancers	Brain Angular Gyrus	brain
42	chr3:99600000-99600400	Weak transcription	Psoas Muscle	Psoas
43	chr3:99600000-99601200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr3:99600200-99600600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:99600200-99600600	Enhancers	Adipose Nuclei	Adipose
46	chr3:99600200-99600600	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr3:99600200-99601400	Enhancers	HepG2	liver
48	chr3:99600200-99603200	Enhancers	HUVEC	blood vessel

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