Variant report

Variant	rs7991685
Chromosome Location	chr13:51992717-51992718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51987238..51991497-chr13:51991664..51994935,3	K562	blood:
2	chr13:51992302..51994803-chr13:51997881..52000527,3	K562	blood:
3	chr13:51987155..51989233-chr13:51992087..51994561,2	MCF-7	breast:
4	chr13:51990141..51994470-chr13:51996200..51998444,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1014934	0.88[ASW][hapmap];0.95[CEU][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3818360	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993686	0.91[CEU][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.84[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7997510	0.83[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs9526760	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9535650	0.91[CEU][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535657	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535664	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596506	1.00[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9788315	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7991685	INTS6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51945800-52016600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:51949400-52025000	Weak transcription	Fetal Muscle Leg	muscle
3	chr13:51950000-52025200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:51950200-51999800	Weak transcription	Brain Germinal Matrix	brain
5	chr13:51958000-51996800	Weak transcription	Thymus	Thymus
6	chr13:51962200-51993200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:51963200-52024800	Weak transcription	Fetal Intestine Large	intestine
8	chr13:51963600-52003600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr13:51969600-51995000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:51971800-52025000	Weak transcription	Fetal Stomach	stomach
11	chr13:51972000-51993400	Weak transcription	Stomach Mucosa	stomach
12	chr13:51972000-51995000	Weak transcription	Placenta	Placenta
13	chr13:51972000-51995200	Weak transcription	HSMMtube	muscle
14	chr13:51972000-51996800	Weak transcription	Ovary	ovary
15	chr13:51972000-51999400	Weak transcription	Small Intestine	intestine
16	chr13:51972000-52005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:51972000-52016000	Weak transcription	Pancreas	Pancrea
18	chr13:51972400-51996400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:51972600-51993000	Weak transcription	Colon Smooth Muscle	Colon
20	chr13:51973800-51993200	Weak transcription	Hela-S3	cervix
21	chr13:51977000-51996800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:51978400-51995200	Weak transcription	Gastric	stomach
23	chr13:51978400-52003200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:51980000-51995000	Weak transcription	Brain Substantia Nigra	brain
25	chr13:51981600-51999400	Weak transcription	Brain Angular Gyrus	brain
26	chr13:51983800-51993000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:51984400-52024800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr13:51985000-51999400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr13:51985400-51995000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:51985600-51995200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:51985800-51995400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr13:51986400-51996800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:51988200-52001000	Weak transcription	Aorta	Aorta
34	chr13:51988400-51993400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr13:51988400-51995200	Weak transcription	Left Ventricle	heart
36	chr13:51988400-51995200	Weak transcription	Right Atrium	heart
37	chr13:51988400-51996600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr13:51988400-51996600	Weak transcription	Psoas Muscle	Psoas
39	chr13:51988600-51993400	Weak transcription	Adipose Nuclei	Adipose
40	chr13:51988600-51999400	Weak transcription	Brain Anterior Caudate	brain
41	chr13:51988600-51999400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr13:51988800-51993000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:51988800-51994000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr13:51988800-51999400	Weak transcription	Brain Hippocampus Middle	brain
45	chr13:51988800-52024400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr13:51989400-51993600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr13:51989800-51995200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:51989800-51997800	Strong transcription	HSMM	muscle
49	chr13:51990000-51993800	Strong transcription	NH-A	brain
50	chr13:51990000-51994200	Strong transcription	HMEC	breast

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