Variant report

Variant	rs10950212
Chromosome Location	chr7:70203176-70203177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11766719	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671262	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13227667	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1544009	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1569079	0.91[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2293509	0.84[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35363074	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3750170	0.84[CEU][hapmap];0.81[CHB][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3829006	0.84[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6959459	0.86[JPT][hapmap]
rs6960426	0.86[JPT][hapmap]
rs73181096	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73445005	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7782110	0.83[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7783682	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1812409	chr7:70187264-70206903	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv831022	chr7:70189351-70238179	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv916183	chr7:70189900-70220746	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1021274	chr7:70190293-70221743	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1034308	chr7:70190293-70230601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv538934	chr7:70190293-70230601	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv607433	chr7:70190384-70223193	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1840382	chr7:70196953-70203673	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv1837102	chr7:70196953-70210959	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv1842517	chr7:70196953-70210959	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10950212	BAZ1B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70194400-70203400	Weak transcription	Lung	lung
2	chr7:70195800-70227600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:70196200-70211600	Weak transcription	Brain Germinal Matrix	brain
4	chr7:70198400-70218000	Weak transcription	Dnd41	blood
5	chr7:70199400-70203600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:70199400-70203800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:70199400-70205400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:70199600-70205400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:70199800-70203600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:70199800-70204200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:70199800-70205000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:70200200-70205200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:70200600-70203400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:70200600-70203600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:70200600-70206000	Enhancers	Liver	Liver
16	chr7:70200800-70203200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:70201400-70203400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:70201400-70203800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:70201400-70203800	Enhancers	Fetal Lung	lung
20	chr7:70201600-70204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:70201800-70203200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:70201800-70203600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:70201800-70203600	Enhancers	Fetal Brain Female	brain
24	chr7:70201800-70203800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:70201800-70203800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:70201800-70205000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:70202000-70203200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:70202000-70205400	Enhancers	Fetal Brain Male	brain
29	chr7:70202000-70227600	Weak transcription	Fetal Intestine Large	intestine
30	chr7:70202200-70203400	Weak transcription	Colonic Mucosa	Colon
31	chr7:70202200-70203400	Weak transcription	Stomach Mucosa	stomach
32	chr7:70202200-70204000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:70202200-70205400	Enhancers	Fetal Heart	heart
34	chr7:70202200-70209800	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:70202400-70203200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:70202400-70203200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:70202400-70203200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr7:70202400-70203400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:70202400-70203400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:70202400-70203400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:70202400-70203400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:70202400-70203400	Weak transcription	Gastric	stomach
43	chr7:70202400-70203400	Weak transcription	Left Ventricle	heart
44	chr7:70202400-70203400	Weak transcription	Pancreas	Pancrea
45	chr7:70202400-70203400	Weak transcription	Psoas Muscle	Psoas
46	chr7:70202400-70203400	Weak transcription	Right Atrium	heart
47	chr7:70202400-70203400	Enhancers	GM12878-XiMat	blood
48	chr7:70202400-70203400	Enhancers	HSMM	muscle
49	chr7:70202400-70203600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:70202400-70203600	Weak transcription	Brain Cingulate Gyrus	brain

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