Variant report

Variant	rs17695935
Chromosome Location	chr7:140507937-140507938
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140505697..140508092-chr7:140511618..140514170,3	K562	blood:
2	chr7:140504577..140509209-chr7:140711163..140714577,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1009772	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10281975	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10488098	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11983228	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13438418	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1476868	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17622717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17623204	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17695341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17695623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17695707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17695995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1968140	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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2075046	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2079827	0.85[AFR][1000 genomes]
rs246739	0.85[AFR][1000 genomes]
rs2930322	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs38715	0.89[CEU][hapmap]
rs38719	0.89[CEU][hapmap]
rs38720	0.89[CEU][hapmap]
rs38722	0.89[CEU][hapmap]
rs38723	0.89[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs38726	0.89[CEU][hapmap]
rs38734	0.89[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs41282721	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4140846	1.00[JPT][hapmap]
rs55720380	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55875248	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56055746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56115934	0.85[EUR][1000 genomes]
rs56347011	0.89[EUR][1000 genomes]
rs57143942	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57620608	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57675404	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57725920	0.88[AMR][1000 genomes]
rs57846481	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58901822	0.85[AFR][1000 genomes]
rs59183598	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59232128	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59477283	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59816436	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60081231	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60251368	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62484288	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62484291	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62484294	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62484295	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62484299	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62484300	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62485366	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62485368	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62485369	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62485370	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62485372	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62485377	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62485379	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62485383	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62485390	0.93[EUR][1000 genomes]
rs62485391	0.82[EUR][1000 genomes]
rs62485453	0.85[AFR][1000 genomes]
rs62487900	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62487901	1.00[AMR][1000 genomes]
rs62487904	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62487906	0.80[EUR][1000 genomes]
rs62487912	0.84[EUR][1000 genomes]
rs62487913	0.80[EUR][1000 genomes]
rs62487914	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62487916	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62487918	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62487920	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62487921	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62487923	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71645962	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs722011	1.00[CHB][hapmap]
rs73492596	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7810757	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv869260	chr7:140404835-140542905	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17695935	ADCK2	cis	multi-tissue	Pritchard
rs17695935	S100B	trans	brain	seeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
2	chr7:140465800-140508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:140469000-140511200	Weak transcription	Right Ventricle	heart
4	chr7:140469200-140519600	Weak transcription	Aorta	Aorta
5	chr7:140473600-140513600	Weak transcription	Fetal Heart	heart
6	chr7:140474600-140511000	Weak transcription	Brain Substantia Nigra	brain
7	chr7:140475000-140509800	Weak transcription	Spleen	Spleen
8	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:140477200-140511200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:140477400-140510800	Weak transcription	Ovary	ovary
11	chr7:140479600-140510800	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:140479600-140511200	Weak transcription	Lung	lung
13	chr7:140479600-140559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:140479800-140508200	Weak transcription	HSMMtube	muscle
15	chr7:140479800-140511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:140483000-140510600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:140486400-140511000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:140488000-140510600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:140488200-140511000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:140488600-140510600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:140492200-140530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:140492600-140510600	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:140493200-140509000	Weak transcription	GM12878-XiMat	blood
24	chr7:140493600-140536200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:140493800-140510400	Weak transcription	HepG2	liver
26	chr7:140493800-140551800	Weak transcription	Left Ventricle	heart
27	chr7:140494400-140520400	Weak transcription	Fetal Stomach	stomach
28	chr7:140494400-140545400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:140494400-140555600	Weak transcription	Hela-S3	cervix
30	chr7:140494600-140517200	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:140498000-140548600	Weak transcription	A549	lung
32	chr7:140499200-140530400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:140500200-140511000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:140500200-140517400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:140500200-140530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:140500200-140533800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:140500400-140508200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:140500400-140508200	Weak transcription	Esophagus	oesophagus
39	chr7:140500400-140510200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:140500400-140510600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:140500400-140511000	Weak transcription	Fetal Kidney	kidney
42	chr7:140500400-140511200	Weak transcription	Placenta	Placenta
43	chr7:140500400-140517400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:140500400-140517400	Weak transcription	HSMM	muscle
45	chr7:140500400-140526800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:140500400-140529400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:140500400-140533800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:140500400-140534000	Weak transcription	Fetal Thymus	thymus
49	chr7:140500400-140545600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:140500400-140548800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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