Variant report

Variant	rs182395908
Chromosome Location	chr3:160286139-160286140
allele	C/T
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	POLR2A	chr3:160285987-160286168	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:160286068-160286144	MCF-7	breast:	n/a	n/a
3	POLR2A	chr3:160285997-160286155	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:160165891..160168986-chr3:160283501..160286413,4	K562	blood:
2	chr3:160281906..160285341-chr3:160285654..160289811,8	MCF-7	breast:
3	chr3:160282613..160284767-chr3:160285868..160288833,4	MCF-7	breast:
4	chr3:160165801..160167391-chr3:160284829..160286413,2	K562	blood:

Variant related genes	Relation type
KPNA4	TF binding region
ENSG00000186432	Chromatin interaction
ENSG00000213186	Chromatin interaction
ENSG00000229320	Chromatin interaction

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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
5	nsv877702	chr3:160262803-160304614	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	nsv4089	chr3:160284848-160330024	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv963373	chr3:160285741-160287108	ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160284200-160286200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:160284200-160286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:160284200-160289600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:160284400-160286200	Weak transcription	Pancreas	Pancrea
5	chr3:160284400-160286600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr3:160284400-160286800	Weak transcription	Fetal Thymus	thymus
7	chr3:160284600-160286200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr3:160284600-160286200	Weak transcription	Left Ventricle	heart
9	chr3:160284600-160286400	Weak transcription	Aorta	Aorta
10	chr3:160284600-160286400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:160284600-160286800	Weak transcription	Thymus	Thymus
12	chr3:160284600-160287000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:160284600-160288400	Weak transcription	Ovary	ovary
14	chr3:160284800-160287200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:160284800-160287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:160284800-160287600	Weak transcription	Fetal Intestine Large	intestine
17	chr3:160284800-160287800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:160284800-160288200	Weak transcription	Brain Substantia Nigra	brain
19	chr3:160284800-160288400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr3:160284800-160289600	Weak transcription	Fetal Lung	lung
21	chr3:160284800-160292000	Weak transcription	Brain Anterior Caudate	brain
22	chr3:160284800-160295000	Weak transcription	Stomach Mucosa	stomach
23	chr3:160284800-160295200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:160285000-160287000	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:160285000-160287200	Weak transcription	GM12878-XiMat	blood
26	chr3:160285000-160287400	Enhancers	Dnd41	blood
27	chr3:160285000-160287800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:160285000-160287800	Weak transcription	Liver	Liver
29	chr3:160285000-160289600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:160285000-160290800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:160285000-160292200	Weak transcription	Primary B cells from cord blood	blood
32	chr3:160285200-160286200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:160285200-160286200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:160285200-160286200	Weak transcription	A549	lung
35	chr3:160285200-160286200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr3:160285200-160287000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:160285200-160287600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:160285200-160287600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:160285200-160287800	Weak transcription	Psoas Muscle	Psoas
40	chr3:160285200-160288000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:160285200-160289600	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:160285200-160293400	Weak transcription	HepG2	liver
43	chr3:160285200-160294400	Weak transcription	HSMMtube	muscle
44	chr3:160285200-160298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:160285400-160286200	Strong transcription	Primary T cells from cord blood	blood
46	chr3:160285400-160286400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:160285400-160286800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:160285400-160286800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr3:160285400-160288000	Weak transcription	NHDF-Ad	bronchial
50	chr3:160285400-160288400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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