Variant report

Variant	rs1361938
Chromosome Location	chr7:126998282-126998283
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126994441..126996750-chr7:126997785..127000283,3	K562	blood:
2	chr7:126993441..126998972-chr7:127031083..127033725,7	MCF-7	breast:
3	chr7:126985529..126987852-chr7:126995561..126998469,2	K562	blood:

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10226106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10235028	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10249162	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10249166	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10253737	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10254399	0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10255062	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10263603	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10279882	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1057454	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10954148	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11563347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11563470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1361937	0.95[YRI][hapmap]
rs1361939	0.95[YRI][hapmap]
rs1361940	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1419394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1419395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419396	0.95[YRI][hapmap]
rs1419405	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1419418	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1419419	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419420	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419421	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419423	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17866417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1946107	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1946108	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2027952	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2027954	0.95[YRI][hapmap]
rs2040500	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs2106181	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2269728	0.83[CEU][hapmap];0.92[CHB][hapmap];0.83[EUR][1000 genomes]
rs2269729	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285338	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2402859	0.92[CEU][hapmap];0.92[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28729203	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4728067	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4728068	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731350	0.92[ASW][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs4731352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731353	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731354	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731355	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731356	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731357	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731358	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731359	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6467120	0.85[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6467122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467123	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6467124	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67076804	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6957320	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959198	0.95[YRI][hapmap]
rs6962137	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6972420	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs6973862	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6978090	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6979232	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs712696	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7777556	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7786199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7805194	0.95[YRI][hapmap]
rs7805256	0.95[YRI][hapmap]
rs7811565	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap];0.90[ASN][1000 genomes]
rs951808	0.95[YRI][hapmap]
rs951992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9656363	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9791822	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9791825	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs986584	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs987384	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.87[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	nsv1017145	chr7:126995304-127015459	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1361938	ASB15	cis	cerebellum	SCAN
rs1361938	TMEM229A	cis	parietal	SCAN
rs1361938	ZNF800	cis	parietal	SCAN
rs1361938	ZNF800	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
3	chr7:126988200-127001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:126988400-126998800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:126988400-126998800	Weak transcription	Placenta	Placenta
6	chr7:126988400-126999200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:126988400-126999200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:126988400-126999800	Weak transcription	Primary T cells from cord blood	blood
9	chr7:126988400-127000000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:126988400-127000000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:126988400-127000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:126988400-127000200	Weak transcription	Adipose Nuclei	Adipose
13	chr7:126988400-127000400	Weak transcription	Hela-S3	cervix
14	chr7:126988400-127000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:126988400-127000600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:126988400-127000600	Weak transcription	Fetal Intestine Large	intestine
17	chr7:126988400-127000800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:126988400-127000800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:126988400-127000800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:126988400-127000800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:126988400-127001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:126988400-127001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:126988400-127001000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:126988400-127001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:126988400-127001000	Weak transcription	Aorta	Aorta
28	chr7:126988400-127001000	Weak transcription	Brain Angular Gyrus	brain
29	chr7:126988400-127001000	Weak transcription	Esophagus	oesophagus
30	chr7:126988400-127001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:126988400-127001000	Weak transcription	Fetal Stomach	stomach
32	chr7:126988400-127001000	Weak transcription	Left Ventricle	heart
33	chr7:126988400-127001000	Weak transcription	Lung	lung
34	chr7:126988400-127001000	Weak transcription	Right Ventricle	heart
35	chr7:126988400-127001000	Weak transcription	Thymus	Thymus
36	chr7:126988400-127001000	Weak transcription	NH-A	brain
37	chr7:126988400-127001000	Weak transcription	NHLF	lung
38	chr7:126988400-127001200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:126988400-127002200	Weak transcription	Fetal Heart	heart
40	chr7:126988400-127004400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:126988400-127006400	Weak transcription	Psoas Muscle	Psoas
42	chr7:126988400-127012600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:126988400-127013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:126988400-127013000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:126988400-127013200	Weak transcription	NHEK	skin
46	chr7:126988400-127013400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:126988400-127014000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:126988400-127030200	Weak transcription	Fetal Intestine Small	intestine
49	chr7:126988400-127031400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:126988400-127031400	Weak transcription	Colonic Mucosa	Colon

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