Variant report

Variant	rs3818494
Chromosome Location	chr13:95858704-95858705
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95858681..95860676-chr13:95871438..95873483,2	K562	blood:
2	chr13:95856315..95858779-chr13:95861515..95863648,2	K562	blood:

Variant related genes	Relation type
ENSG00000238463	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1815344	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2013713	0.96[ASN][1000 genomes]
rs2274405	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274406	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2274408	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274410	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2389204	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3818486	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3818493	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3818495	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4773845	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4773846	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7331142	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7983079	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9516536	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9524827	0.96[CEU][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9590200	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
2	chr13:95827400-95872400	Weak transcription	NH-A	brain
3	chr13:95833800-95859800	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:95834000-95865400	Weak transcription	Psoas Muscle	Psoas
5	chr13:95838200-95867400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:95839400-95863800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:95840400-95874400	Weak transcription	Pancreas	Pancrea
8	chr13:95842000-95864800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:95842000-95869000	Weak transcription	Fetal Kidney	kidney
10	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
11	chr13:95844400-95864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:95844400-95865600	Weak transcription	Spleen	Spleen
13	chr13:95844400-95867600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:95844600-95863600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:95846000-95871400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:95846200-95859400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:95846200-95872400	Weak transcription	Brain Anterior Caudate	brain
18	chr13:95847800-95860200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr13:95847800-95868200	Weak transcription	Fetal Lung	lung
20	chr13:95847800-95880400	Weak transcription	Ovary	ovary
21	chr13:95848400-95861600	Weak transcription	HSMMtube	muscle
22	chr13:95850800-95867600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:95852800-95862200	Weak transcription	Right Ventricle	heart
24	chr13:95853800-95859800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:95853800-95863400	Weak transcription	Adipose Nuclei	Adipose
26	chr13:95855000-95863000	Strong transcription	Fetal Intestine Small	intestine
27	chr13:95855200-95859000	Strong transcription	Lung	lung
28	chr13:95855200-95862200	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr13:95855400-95859000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:95855400-95863400	Weak transcription	Osteobl	bone
31	chr13:95855400-95867400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:95855600-95861800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:95855800-95859000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr13:95855800-95862000	Strong transcription	NHLF	lung
35	chr13:95856000-95858800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr13:95856000-95859000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:95856000-95859000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:95856000-95859000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr13:95856000-95859200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr13:95856000-95859600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr13:95856000-95859800	Strong transcription	GM12878-XiMat	blood
42	chr13:95856000-95863000	Strong transcription	A549	lung
43	chr13:95856000-95864400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:95856200-95859000	Strong transcription	Gastric	stomach
45	chr13:95856400-95859000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:95856400-95859600	Strong transcription	K562	blood
47	chr13:95856400-95865400	Weak transcription	Left Ventricle	heart
48	chr13:95856400-95872600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr13:95856400-95898200	Weak transcription	NHEK	skin
50	chr13:95856600-95858800	Strong transcription	Rectal Mucosa Donor 31	rectum

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