Variant report

Variant	rs2632241
Chromosome Location	chr3:113749765-113749766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11926807	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13061658	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13064372	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13064466	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13069900	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13070378	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13071100	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13086657	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13087347	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13096290	1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1386478	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[GIH][hapmap];0.87[TSI][hapmap]
rs1487265	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242316	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2632259	0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324553	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324555	1.00[ASW][hapmap];0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324556	0.89[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35745351	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775521	0.82[LWK][hapmap]
rs6809991	0.82[LWK][hapmap]
rs7620955	0.82[EUR][1000 genomes]
rs7631864	0.95[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7638536	0.82[LWK][hapmap]

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	nsv877352	chr3:113744010-113870078	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2632241	KTELC1	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113673400-113761000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:113699600-113753200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:113715000-113762600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:113723000-113756000	Weak transcription	Small Intestine	intestine
5	chr3:113724800-113755600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:113724800-113763400	Weak transcription	Fetal Lung	lung
7	chr3:113724800-113774400	Weak transcription	Aorta	Aorta
8	chr3:113725000-113752400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:113725000-113752400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:113725000-113752600	Weak transcription	Adipose Nuclei	Adipose
11	chr3:113725000-113753400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr3:113725000-113755000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:113725000-113759200	Weak transcription	Brain Substantia Nigra	brain
14	chr3:113725000-113762000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:113725200-113752200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr3:113725200-113757600	Weak transcription	Esophagus	oesophagus
17	chr3:113725200-113759400	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:113725200-113760000	Weak transcription	Fetal Stomach	stomach
19	chr3:113725200-113762200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:113725200-113767000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:113725200-113774200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:113725200-113774600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:113725200-113774800	Weak transcription	Pancreas	Pancrea
24	chr3:113725400-113760600	Weak transcription	Lung	lung
25	chr3:113725400-113774400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:113729800-113751200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:113729800-113752000	Weak transcription	Ovary	ovary
28	chr3:113729800-113752400	Weak transcription	Left Ventricle	heart
29	chr3:113729800-113752600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:113730200-113752000	Weak transcription	Primary T cells from cord blood	blood
31	chr3:113730200-113752600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:113730800-113752200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr3:113733600-113757600	Weak transcription	Fetal Intestine Large	intestine
34	chr3:113734800-113752400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:113737200-113752600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:113738000-113751800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:113741600-113752200	Weak transcription	Primary B cells from cord blood	blood
38	chr3:113741600-113762000	Weak transcription	Brain Angular Gyrus	brain
39	chr3:113744400-113774200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:113744800-113752600	Weak transcription	Fetal Kidney	kidney
41	chr3:113745200-113751400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:113745200-113752600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:113745800-113764600	Weak transcription	A549	lung
44	chr3:113745800-113774200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr3:113746400-113752200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:113747400-113750200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:113747400-113754800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr3:113747800-113762600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:113748000-113751200	Weak transcription	Brain Anterior Caudate	brain
50	chr3:113748000-113753400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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