Variant report

Variant	rs7112835
Chromosome Location	chr11:108813604-108813605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108808750..108811658-chr11:108812114..108813943,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1035724	0.95[ASN][1000 genomes]
rs10502105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10890907	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11212763	0.81[ASN][1000 genomes]
rs11212765	0.81[ASN][1000 genomes]
rs11212767	0.81[ASN][1000 genomes]
rs11212768	0.81[ASN][1000 genomes]
rs11212769	0.82[ASN][1000 genomes]
rs11212770	0.82[ASN][1000 genomes]
rs11212815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212820	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212821	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212822	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12794068	0.90[ASN][1000 genomes]
rs1381824	0.80[ASN][1000 genomes]
rs17108706	0.85[YRI][hapmap]
rs17108757	0.90[YRI][hapmap]
rs17108781	0.90[YRI][hapmap]
rs1975910	1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1975911	1.00[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2128244	0.81[ASN][1000 genomes]
rs2128246	0.81[ASN][1000 genomes]
rs2162158	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2357324	0.93[CHB][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.89[ASN][1000 genomes]
rs2466927	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[ASN][1000 genomes]
rs2466930	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2466935	0.81[ASN][1000 genomes]
rs2466939	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[ASN][1000 genomes]
rs2514118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2514120	0.91[ASN][1000 genomes]
rs2553748	0.91[ASN][1000 genomes]
rs2553755	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[ASN][1000 genomes]
rs2553762	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.90[ASN][1000 genomes]
rs2553765	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2553766	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[ASN][1000 genomes]
rs2615716	0.82[ASN][1000 genomes]
rs2615717	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2615718	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2615728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2615729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2615731	0.87[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs2615732	0.82[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2615736	0.81[ASN][1000 genomes]
rs2615737	0.81[ASN][1000 genomes]
rs2615739	0.81[ASN][1000 genomes]
rs2615740	0.81[ASN][1000 genomes]
rs2615741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2615752	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2615755	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2615760	1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2615761	0.83[ASN][1000 genomes]
rs2624128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2624138	0.81[ASN][1000 genomes]
rs2624139	0.81[ASN][1000 genomes]
rs2624149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2726869	0.90[ASN][1000 genomes]
rs2726871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2726875	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2726883	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2726888	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs2726889	0.81[ASN][1000 genomes]
rs2726893	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[ASN][1000 genomes]
rs2726894	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2726895	0.91[ASN][1000 genomes]
rs2726901	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.90[ASN][1000 genomes]
rs2726902	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2726904	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2726912	0.92[ASN][1000 genomes]
rs2726923	0.91[CHD][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap]
rs3781865	0.81[ASN][1000 genomes]
rs4027412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4753846	0.81[ASN][1000 genomes]
rs4753847	0.81[ASN][1000 genomes]
rs4754349	0.81[ASN][1000 genomes]
rs4754361	0.91[ASN][1000 genomes]
rs4754362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4754364	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58064663	0.81[ASN][1000 genomes]
rs58210719	0.82[ASN][1000 genomes]
rs61158618	0.81[ASN][1000 genomes]
rs61338713	0.81[ASN][1000 genomes]
rs61914008	0.81[ASN][1000 genomes]
rs61914010	0.81[ASN][1000 genomes]
rs61914011	0.81[ASN][1000 genomes]
rs7101725	0.81[ASN][1000 genomes]
rs7113892	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7130411	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73007427	0.81[ASN][1000 genomes]
rs919038	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7112835	KBTBD3	cis	parietal	SCAN
rs7112835	DDX10	cis	lymphoblastoid	seeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108787200-108815000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:108797400-108816200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:108798200-108814800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:108798800-108814600	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:108800800-108818000	Weak transcription	HMEC	breast
6	chr11:108805200-108814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:108805200-108829600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:108805800-108814800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:108807800-108814400	Weak transcription	Fetal Brain Male	brain
10	chr11:108808000-108815400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:108808000-108816200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:108808600-108815000	Strong transcription	Primary T cells from cord blood	blood
13	chr11:108808800-108814000	Weak transcription	Fetal Brain Female	brain
14	chr11:108808800-108819000	Weak transcription	HepG2	liver
15	chr11:108809200-108816200	Weak transcription	Spleen	Spleen
16	chr11:108809400-108813800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:108809400-108813800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:108809600-108814400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:108809600-108814600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:108809600-108816800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:108809600-108817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:108809600-108819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:108809800-108815000	Weak transcription	Brain Substantia Nigra	brain
24	chr11:108810000-108814200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:108810000-108814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:108810000-108816600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:108810200-108829000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:108810600-108814200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:108810800-108814400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:108811400-108814600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:108811400-108817800	Weak transcription	Gastric	stomach
32	chr11:108811400-108818400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:108811600-108813800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:108811600-108814200	Weak transcription	GM12878-XiMat	blood
35	chr11:108811600-108814600	Weak transcription	Esophagus	oesophagus
36	chr11:108811600-108814800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:108811600-108818200	Weak transcription	A549	lung
38	chr11:108811600-108819400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:108811800-108817000	Enhancers	Fetal Thymus	thymus
40	chr11:108811800-108818200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:108812000-108814400	Weak transcription	HSMM	muscle
42	chr11:108812000-108816000	Weak transcription	Dnd41	blood
43	chr11:108812000-108816200	Weak transcription	Fetal Stomach	stomach
44	chr11:108812000-108817000	Weak transcription	Aorta	Aorta
45	chr11:108812000-108817200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:108812000-108817400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:108812000-108817600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:108812000-108818200	Weak transcription	K562	blood
49	chr11:108812000-108818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:108812000-108822200	Weak transcription	Pancreas	Pancrea

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