Variant report

Variant	rs4853710
Chromosome Location	chr2:191325255-191325256
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191324546..191326612-chr2:191328587..191331332,2	K562	blood:
2	chr2:191322695..191327408-chr2:191328013..191334645,7	K562	blood:
3	chr2:191323309..191325277-chr2:191325283..191326874,2	MCF-7	breast:
4	chr2:191317071..191321557-chr2:191322471..191325941,5	K562	blood:

Variant related genes	Relation type
ENSG00000151690	Chromatin interaction
ENSG00000272979	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10084203	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10174174	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10188341	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10190082	0.85[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10197348	0.95[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10432434	0.86[ASN][1000 genomes]
rs10931451	0.85[ASN][1000 genomes]
rs10931458	0.94[ASW][hapmap];0.85[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1128723	0.89[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11885992	0.85[ASN][1000 genomes]
rs12052514	0.89[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12053190	0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12172905	0.85[ASN][1000 genomes]
rs12470863	0.83[EUR][1000 genomes]
rs12472081	0.83[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12693579	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12998288	0.95[LWK][hapmap];0.84[AFR][1000 genomes]
rs13409841	0.84[LWK][hapmap]
rs13417431	0.92[ASN][1000 genomes]
rs16832765	0.85[JPT][hapmap]
rs1866851	0.85[ASN][1000 genomes]
rs35818159	0.83[ASN][1000 genomes]
rs4129082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4258824	0.89[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4261750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4287794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4340549	0.81[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4371384	0.80[ASN][1000 genomes]
rs4439990	0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4641969	0.85[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4853510	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4853713	0.92[YRI][hapmap]
rs4853716	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56127319	0.91[ASN][1000 genomes]
rs56342910	0.97[ASN][1000 genomes]
rs59929070	0.98[ASN][1000 genomes]
rs60915953	0.86[ASN][1000 genomes]
rs61709084	0.92[ASN][1000 genomes]
rs62180987	0.85[ASN][1000 genomes]
rs62180990	0.83[ASN][1000 genomes]
rs62180992	0.92[ASN][1000 genomes]
rs62181018	0.98[ASN][1000 genomes]
rs62181019	0.98[ASN][1000 genomes]
rs62181020	0.98[ASN][1000 genomes]
rs62181029	0.84[ASN][1000 genomes]
rs62181034	0.85[ASN][1000 genomes]
rs62181052	0.84[ASN][1000 genomes]
rs62182865	0.80[ASN][1000 genomes]
rs6711928	0.81[EUR][1000 genomes]
rs6712426	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6727669	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6731287	0.94[ASW][hapmap];0.81[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7567059	0.86[ASN][1000 genomes]
rs7569128	0.85[JPT][hapmap]
rs7581762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7581986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7593240	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33134	chr2:191318791-191365710	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4853710	HIBCH	cis	parietal	SCAN
rs4853710	INPP1	cis	parietal	SCAN
rs4853710	MFSD6	cis	cerebellum	SCAN
rs4853710	MSTN	cis	cerebellum	SCAN
rs4853710	INPP1	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191302400-191331000	Weak transcription	A549	lung
2	chr2:191303800-191331600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:191303800-191332600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:191306600-191351000	Weak transcription	Pancreas	Pancrea
5	chr2:191308000-191328800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:191308800-191327200	Weak transcription	Right Atrium	heart
7	chr2:191309400-191331400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:191310400-191331600	Weak transcription	Stomach Mucosa	stomach
9	chr2:191311600-191331400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:191311800-191331400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:191311800-191331400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:191311800-191331600	Weak transcription	Ovary	ovary
13	chr2:191312000-191332400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:191313000-191331400	Weak transcription	HSMMtube	muscle
15	chr2:191313000-191333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:191314000-191331600	Weak transcription	Fetal Kidney	kidney
17	chr2:191315800-191327400	Weak transcription	Spleen	Spleen
18	chr2:191316600-191331200	Weak transcription	NHLF	lung
19	chr2:191317600-191331600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:191319400-191331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:191319400-191332000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:191320800-191327800	Strong transcription	Primary T cells from cord blood	blood
23	chr2:191322000-191325400	Weak transcription	Lung	lung
24	chr2:191322000-191327400	Weak transcription	GM12878-XiMat	blood
25	chr2:191322000-191331600	Weak transcription	Fetal Brain Female	brain
26	chr2:191322000-191335800	Weak transcription	Esophagus	oesophagus
27	chr2:191322200-191331400	Weak transcription	Fetal Stomach	stomach
28	chr2:191322600-191325400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:191322600-191328600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:191322600-191335600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:191322800-191325400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:191322800-191327200	Weak transcription	Brain Angular Gyrus	brain
33	chr2:191322800-191329200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:191322800-191331200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:191323000-191329000	Weak transcription	Fetal Thymus	thymus
36	chr2:191323000-191329200	Weak transcription	Thymus	Thymus
37	chr2:191323000-191331000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:191323000-191334600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:191323200-191325400	Weak transcription	Aorta	Aorta
40	chr2:191323200-191326000	Weak transcription	Primary B cells from cord blood	blood
41	chr2:191323200-191330800	Weak transcription	Dnd41	blood
42	chr2:191323200-191332400	Weak transcription	Fetal Intestine Small	intestine
43	chr2:191323200-191335800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:191323400-191333600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:191323600-191325600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr2:191323600-191328800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:191323800-191330800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:191324000-191325400	Weak transcription	Brain Anterior Caudate	brain
49	chr2:191324000-191327200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:191324000-191331400	Weak transcription	Fetal Muscle Leg	muscle

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