Variant report

Variant	rs16832976
Chromosome Location	chr1:151038135-151038136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:151038120-151038270	GM12866	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150536175..150539015-chr1:151037065..151039505,2	K562	blood:

Variant related genes	Relation type
GABPB2	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11204755	0.84[CEU][hapmap]
rs11204765	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11204766	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11204774	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11204775	1.00[AMR][1000 genomes]
rs12058128	0.81[AFR][1000 genomes]
rs12067174	1.00[ASW][hapmap];0.81[LWK][hapmap]
rs12068365	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12068631	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12070256	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12070288	0.94[EUR][1000 genomes]
rs12074309	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs12078857	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs12088941	0.82[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs12089658	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs12090246	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs1673161	0.85[EUR][1000 genomes]
rs3002292	0.83[EUR][1000 genomes]
rs34761930	0.81[AFR][1000 genomes]
rs41266632	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4418603	0.85[EUR][1000 genomes]
rs6664387	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689566	1.00[GIH][hapmap]
rs6695311	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7526955	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs7537292	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs955955	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[EUR][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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151033000-151042800	Weak transcription	Gastric	stomach
2	chr1:151033200-151042200	Weak transcription	Esophagus	oesophagus
3	chr1:151033200-151042200	Weak transcription	Pancreas	Pancrea
4	chr1:151033200-151042600	Weak transcription	Aorta	Aorta
5	chr1:151033600-151041800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:151033600-151042200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:151033800-151038400	Weak transcription	Primary T cells from cord blood	blood
8	chr1:151033800-151042600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:151033800-151042600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:151033800-151042600	Weak transcription	Right Atrium	heart
11	chr1:151034000-151038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:151034000-151038400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:151034000-151041800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:151034000-151041800	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:151034000-151041800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:151034000-151042000	Weak transcription	Spleen	Spleen
17	chr1:151034000-151042200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:151034000-151042400	Weak transcription	Fetal Intestine Small	intestine
19	chr1:151034200-151038400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:151034200-151038400	Weak transcription	Fetal Stomach	stomach
21	chr1:151034200-151038600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:151034200-151041600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:151034200-151042400	Weak transcription	Fetal Intestine Large	intestine
24	chr1:151034400-151038600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:151034400-151041400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:151034400-151042200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:151034600-151038600	Weak transcription	Thymus	Thymus
28	chr1:151034600-151039600	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:151034600-151041800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:151034600-151042600	Weak transcription	Fetal Kidney	kidney
31	chr1:151035200-151041600	Strong transcription	Fetal Thymus	thymus
32	chr1:151035400-151038400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:151035400-151038400	Weak transcription	Fetal Lung	lung
34	chr1:151035400-151038800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:151035800-151039600	Weak transcription	NHLF	lung
36	chr1:151035800-151039800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:151035800-151041800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:151035800-151041800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:151035800-151041800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:151035800-151042200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:151035800-151042200	Weak transcription	HMEC	breast
42	chr1:151035800-151042600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:151035800-151042600	Weak transcription	Brain Anterior Caudate	brain
44	chr1:151035800-151042600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:151035800-151042600	Weak transcription	NHEK	skin
46	chr1:151036000-151041800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:151036200-151038800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:151036400-151038400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:151036400-151038600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:151036400-151038600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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