Variant report

Variant	rs7130411
Chromosome Location	chr11:108810687-108810688
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108794799..108797753-chr11:108810221..108812207,2	K562	blood:
2	chr11:108808750..108811658-chr11:108812114..108813943,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1035724	0.96[ASN][1000 genomes]
rs10502105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890907	0.99[ASN][1000 genomes]
rs11212763	0.82[ASN][1000 genomes]
rs11212765	0.82[ASN][1000 genomes]
rs11212766	0.80[ASN][1000 genomes]
rs11212767	0.82[ASN][1000 genomes]
rs11212768	0.82[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];0.86[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212820	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212821	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212822	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11602510	0.81[ASN][1000 genomes]
rs11605243	0.81[ASN][1000 genomes]
rs12794068	0.91[ASN][1000 genomes]
rs1381824	0.81[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]
rs2126567	0.81[ASN][1000 genomes]
rs2128244	0.82[ASN][1000 genomes]
rs2128246	0.82[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];0.82[MEX][hapmap];0.98[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2169563	0.81[ASN][1000 genomes]
rs2357324	0.93[CHB][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.90[ASN][1000 genomes]
rs2466927	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[ASN][1000 genomes]
rs2466930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
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];0.92[ASN][1000 genomes]
rs2514118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2514120	0.92[ASN][1000 genomes]
rs2553748	0.92[ASN][1000 genomes]
rs2553755	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[ASN][1000 genomes]
rs2553762	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[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];0.92[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];0.81[ASN][1000 genomes]
rs2615728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2615729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[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];0.89[ASN][1000 genomes]
rs2615736	0.82[ASN][1000 genomes]
rs2615737	0.82[ASN][1000 genomes]
rs2615739	0.82[ASN][1000 genomes]
rs2615740	0.82[ASN][1000 genomes]
rs2615741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[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];0.84[ASN][1000 genomes]
rs2615761	0.84[ASN][1000 genomes]
rs2624128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2624138	0.82[ASN][1000 genomes]
rs2624139	0.82[ASN][1000 genomes]
rs2624149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2726869	0.91[ASN][1000 genomes]
rs2726871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2726875	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[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];0.81[ASN][1000 genomes]
rs2726889	0.81[ASN][1000 genomes]
rs2726892	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];0.92[ASN][1000 genomes]
rs2726894	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2726895	0.92[ASN][1000 genomes]
rs2726901	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.91[ASN][1000 genomes]
rs2726902	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2726904	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2726912	0.93[ASN][1000 genomes]
rs2726922	0.81[ASN][1000 genomes]
rs2726923	0.91[CHD][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs3781865	0.82[ASN][1000 genomes]
rs4027412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4753846	0.82[ASN][1000 genomes]
rs4753847	0.82[ASN][1000 genomes]
rs4754348	0.81[ASN][1000 genomes]
rs4754349	0.82[ASN][1000 genomes]
rs4754352	0.80[ASN][1000 genomes]
rs4754361	0.92[ASN][1000 genomes]
rs4754362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754364	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58064663	0.82[ASN][1000 genomes]
rs58210719	0.82[ASN][1000 genomes]
rs61158618	0.82[ASN][1000 genomes]
rs61338713	0.82[ASN][1000 genomes]
rs61914003	0.81[ASN][1000 genomes]
rs61914008	0.82[ASN][1000 genomes]
rs61914010	0.82[ASN][1000 genomes]
rs61914011	0.82[ASN][1000 genomes]
rs7101725	0.82[ASN][1000 genomes]
rs7112835	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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];0.91[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73005539	0.81[ASN][1000 genomes]
rs73007427	0.82[ASN][1000 genomes]
rs919038	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[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
rs7130411	DDX10	cis	lymphoblastoid	seeQTL
rs7130411	KBTBD3	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108787000-108810800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:108787200-108815000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:108791400-108810800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:108791600-108810800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:108794600-108811800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:108797200-108811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:108797400-108816200	Weak transcription	Fetal Intestine Small	intestine
8	chr11:108798200-108813000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:108798200-108814800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:108798400-108811000	Weak transcription	Fetal Stomach	stomach
11	chr11:108798800-108811000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:108798800-108814600	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:108799200-108812000	Weak transcription	Thymus	Thymus
14	chr11:108800200-108811200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:108800600-108810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:108800800-108818000	Weak transcription	HMEC	breast
17	chr11:108802200-108811000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:108802600-108812800	Weak transcription	Hela-S3	cervix
19	chr11:108805000-108811200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:108805000-108812200	Weak transcription	NHLF	lung
21	chr11:108805200-108813400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:108805200-108814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:108805200-108829600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:108805400-108810800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:108805800-108811200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:108805800-108814800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:108806200-108811000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:108807200-108811400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:108807800-108810800	Enhancers	Fetal Heart	heart
30	chr11:108807800-108814400	Weak transcription	Fetal Brain Male	brain
31	chr11:108808000-108811000	Weak transcription	Esophagus	oesophagus
32	chr11:108808000-108811000	Weak transcription	Fetal Thymus	thymus
33	chr11:108808000-108811400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:108808000-108815400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:108808000-108816200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:108808600-108815000	Strong transcription	Primary T cells from cord blood	blood
37	chr11:108808800-108814000	Weak transcription	Fetal Brain Female	brain
38	chr11:108808800-108819000	Weak transcription	HepG2	liver
39	chr11:108809200-108816200	Weak transcription	Spleen	Spleen
40	chr11:108809400-108811000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:108809400-108813800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:108809400-108813800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:108809600-108810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:108809600-108811000	Weak transcription	Fetal Lung	lung
45	chr11:108809600-108811000	Weak transcription	A549	lung
46	chr11:108809600-108811200	Weak transcription	NH-A	brain
47	chr11:108809600-108811800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:108809600-108814400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:108809600-108814600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:108809600-108816800	Weak transcription	Brain Inferior Temporal Lobe	brain

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