Variant report

Variant	rs1193335
Chromosome Location	chr7:127616804-127616805
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127614080..127617711-chr7:127619804..127624160,5	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1024910	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954164	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11768841	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11772303	0.80[AMR][1000 genomes]
rs1193331	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1193333	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1193336	0.84[ASN][1000 genomes]
rs124756	0.85[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs12539411	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12668077	0.82[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.95[MKK][hapmap];0.82[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12673293	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1345509	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs1419967	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1419968	0.88[JPT][hapmap]
rs16871926	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17151229	0.81[AMR][1000 genomes]
rs17151377	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17151470	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2058457	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2241291	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];0.85[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402871	0.81[AMR][1000 genomes]
rs2543477	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322813	0.85[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs322816	0.84[AMR][1000 genomes]
rs322817	0.86[AMR][1000 genomes]
rs322819	0.85[CHB][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes]
rs322820	0.81[CHB][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes]
rs322821	0.82[ASW][hapmap];0.81[CHB][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs322822	0.88[AMR][1000 genomes]
rs322823	0.85[CHB][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.83[AMR][1000 genomes]
rs322824	0.88[AMR][1000 genomes]
rs322825	0.82[ASW][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs322826	0.80[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap]
rs322827	0.88[JPT][hapmap]
rs322828	0.88[JPT][hapmap]
rs322829	0.88[AMR][1000 genomes]
rs322830	0.88[AMR][1000 genomes]
rs322837	0.88[AMR][1000 genomes]
rs322840	0.82[ASW][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes]
rs35774036	0.83[ASN][1000 genomes]
rs3757754	0.88[AMR][1000 genomes]
rs3757759	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3757760	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];0.86[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3757771	0.81[AMR][1000 genomes]
rs3757778	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3779522	0.88[AMR][1000 genomes]
rs3779523	0.85[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes]
rs3779526	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs3779527	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3808056	0.88[CEU][hapmap];0.80[CHB][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs3808077	0.81[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs3808078	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808086	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808088	0.82[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3823995	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs3824003	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4728079	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4731377	0.80[AMR][1000 genomes]
rs4731389	0.81[ASN][1000 genomes]
rs58106688	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481416	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481419	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481443	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62481447	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481450	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6467155	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467156	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67338333	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6969233	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6972847	0.82[EUR][1000 genomes]
rs6973092	0.94[JPT][hapmap]
rs7789322	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882694	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9791922	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv526032	chr7:127607474-127616804	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1193335	GCC1	cis	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:127571400-127617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:127571600-127618000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:127584600-127617800	Weak transcription	Hela-S3	cervix
6	chr7:127587400-127618000	Weak transcription	NHLF	lung
7	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
8	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:127594400-127618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:127594600-127618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:127600000-127617800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:127600400-127617800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:127600400-127617800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:127600400-127618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:127600600-127617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:127600600-127617000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:127600600-127617800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:127600600-127630600	Weak transcription	Adipose Nuclei	Adipose
19	chr7:127601000-127617000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:127601800-127617400	Weak transcription	HMEC	breast
21	chr7:127603000-127627000	Weak transcription	Aorta	Aorta
22	chr7:127603200-127619200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:127603400-127619000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:127606400-127618000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:127607400-127624000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:127607800-127626800	Weak transcription	Ovary	ovary
27	chr7:127609200-127618200	Weak transcription	Osteobl	bone
28	chr7:127609200-127618800	Weak transcription	Fetal Thymus	thymus
29	chr7:127609200-127630800	Weak transcription	NH-A	brain
30	chr7:127609400-127623400	Weak transcription	Pancreas	Pancrea
31	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
32	chr7:127611400-127617000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:127612800-127617800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:127612800-127618200	Strong transcription	K562	blood
35	chr7:127613000-127617200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:127613000-127617800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr7:127613400-127617600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:127613600-127617200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:127613600-127617400	Enhancers	Fetal Brain Male	brain
40	chr7:127613600-127619800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:127613800-127617000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:127613800-127623400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:127614000-127631000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:127614200-127617800	Strong transcription	Primary B cells from cord blood	blood
45	chr7:127614400-127618000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:127614400-127630600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:127614800-127617200	Strong transcription	Fetal Stomach	stomach
48	chr7:127614800-127617800	Weak transcription	HSMM	muscle
49	chr7:127615000-127619000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:127615200-127617200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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