Variant report

Variant	rs7643188
Chromosome Location	chr3:160157483-160157484
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160155647..160158361-chr3:160282642..160284946,2	K562	blood:
2	chr3:160146751..160150708-chr3:160150793..160158045,9	K562	blood:
3	chr3:160154300..160157981-chr3:160166786..160169442,5	MCF-7	breast:
4	chr3:160152431..160159028-chr3:160159168..160164097,7	MCF-7	breast:
5	chr3:160131023..160133383-chr3:160157352..160160209,3	K562	blood:
6	chr3:160156708..160158312-chr3:160288090..160290046,2	K562	blood:

Variant related genes	Relation type
ENSG00000213186	Chromatin interaction
ENSG00000186432	Chromatin interaction
ENSG00000113810	Chromatin interaction
ENSG00000229320	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34182424	0.90[AFR][1000 genomes]
rs6768295	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6792810	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7631140	1.00[AFR][1000 genomes]

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	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	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
7	esv1801686	chr3:160089896-160248363	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	211 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160120200-160164400	Weak transcription	Fetal Brain Male	brain
2	chr3:160121200-160157800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:160122000-160161000	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:160122000-160164400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:160122000-160164600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:160124000-160159000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:160125200-160159800	Strong transcription	HSMM	muscle
8	chr3:160128600-160158200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:160130000-160166200	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:160132000-160158800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:160133800-160164600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:160134800-160158800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:160135000-160159200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:160137800-160158800	Strong transcription	Primary B cells from cord blood	blood
15	chr3:160140800-160166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:160142400-160164400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:160143600-160166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:160145600-160166800	Weak transcription	Right Atrium	heart
19	chr3:160146000-160160000	Weak transcription	Ovary	ovary
20	chr3:160146000-160162400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:160146000-160164400	Weak transcription	Gastric	stomach
22	chr3:160146000-160165400	Weak transcription	Aorta	Aorta
23	chr3:160146000-160167000	Weak transcription	Pancreas	Pancrea
24	chr3:160146400-160166200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:160146800-160160000	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:160147000-160164400	Weak transcription	Esophagus	oesophagus
27	chr3:160147000-160166200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr3:160147800-160164400	Weak transcription	Lung	lung
29	chr3:160150000-160160600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:160150000-160162400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:160150400-160162400	Weak transcription	Spleen	Spleen
32	chr3:160150600-160166000	Weak transcription	Fetal Brain Female	brain
33	chr3:160151000-160160600	Weak transcription	Fetal Kidney	kidney
34	chr3:160151000-160166600	Weak transcription	Small Intestine	intestine
35	chr3:160151000-160166800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:160152000-160158800	Strong transcription	A549	lung
37	chr3:160152000-160160600	Weak transcription	HepG2	liver
38	chr3:160152200-160163600	Weak transcription	Brain Substantia Nigra	brain
39	chr3:160152200-160165200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:160152400-160164000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:160152400-160166000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:160152600-160165200	Weak transcription	Hela-S3	cervix
43	chr3:160152600-160166200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:160153200-160157600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr3:160153200-160158600	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr3:160153200-160162400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:160153200-160166200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:160153400-160166600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:160154000-160163000	Weak transcription	HMEC	breast
50	chr3:160154000-160164600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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