Variant report

Variant	rs11684157
Chromosome Location	chr2:10827157-10827158
allele	A/C
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	POLR2A	chr2:10826908-10827293	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10584788..10589777-chr2:10826863..10830293,6	K562	blood:
2	chr2:10825832..10829197-chr2:10829233..10832096,3	K562	blood:

Variant related genes	Relation type
RN7SL832P	TF binding region
ENSG00000257135	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000243819	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000115761	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10181806	0.82[CHD][hapmap]
rs10206225	0.85[CHD][hapmap];0.91[MEX][hapmap]
rs1038690	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10929690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691060	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[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695330	0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs12995602	0.83[JPT][hapmap]
rs12998055	0.80[TSI][hapmap]
rs1309	0.82[CHD][hapmap]
rs1387566	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990613	0.82[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap]
rs2287061	0.85[CHD][hapmap]
rs2287062	0.85[CHD][hapmap];0.83[MEX][hapmap]
rs4574081	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4669607	0.88[AFR][1000 genomes]
rs4669608	0.83[ASN][1000 genomes]
rs6432112	0.85[CHD][hapmap];0.92[MEX][hapmap]
rs6432113	0.85[CHD][hapmap];0.92[MEX][hapmap]
rs6432130	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6710033	0.83[JPT][hapmap]
rs6714413	0.80[JPT][hapmap]
rs6721739	0.85[CHD][hapmap];0.92[MEX][hapmap]
rs6727884	0.85[CHD][hapmap];0.92[MEX][hapmap]
rs6735074	0.83[CHD][hapmap];0.92[MEX][hapmap]
rs6744599	0.85[CHD][hapmap];0.92[MEX][hapmap]
rs715247	0.85[CHD][hapmap];0.92[MEX][hapmap]
rs728282	0.85[CHD][hapmap];0.92[MEX][hapmap]
rs7563816	0.85[CHD][hapmap];0.92[MEX][hapmap]
rs7567304	0.85[CEU][hapmap]
rs7589242	0.82[AMR][1000 genomes]
rs7593172	0.89[AFR][1000 genomes]
rs759399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs759403	0.83[CHD][hapmap];0.92[MEX][hapmap]
rs7595845	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11684157	NOL10	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
3	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
4	chr2:10793800-10828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:10794600-10828200	Weak transcription	Stomach Mucosa	stomach
6	chr2:10794600-10828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:10795200-10828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:10800200-10829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:10802400-10828200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:10803600-10828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:10805000-10829200	Weak transcription	Aorta	Aorta
12	chr2:10806200-10828200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:10807600-10828000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:10808200-10828000	Weak transcription	Gastric	stomach
15	chr2:10808200-10828400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:10808400-10828000	Weak transcription	NHLF	lung
17	chr2:10812400-10827400	Weak transcription	Esophagus	oesophagus
18	chr2:10812400-10827400	Weak transcription	Right Ventricle	heart
19	chr2:10813200-10827400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:10813200-10828000	Weak transcription	Lung	lung
21	chr2:10813200-10828200	Weak transcription	Small Intestine	intestine
22	chr2:10813200-10828400	Weak transcription	HSMMtube	muscle
23	chr2:10813200-10829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:10815000-10827600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:10816400-10827400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:10817800-10829400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10818400-10828200	Weak transcription	Fetal Intestine Large	intestine
28	chr2:10819200-10828400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:10820600-10827600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:10821000-10827400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:10821000-10828600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:10821600-10827800	Weak transcription	Right Atrium	heart
33	chr2:10821600-10828200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:10821800-10828000	Weak transcription	NHDF-Ad	bronchial
35	chr2:10821800-10828600	Weak transcription	Fetal Kidney	kidney
36	chr2:10821800-10828800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:10822000-10828400	Weak transcription	NH-A	brain
38	chr2:10822200-10827600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:10822200-10828000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:10822200-10828400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:10822200-10828400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:10822400-10828000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:10822600-10827200	Strong transcription	Fetal Intestine Small	intestine
44	chr2:10823200-10827600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr2:10824000-10828000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:10824000-10828000	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:10824000-10828200	Weak transcription	Adipose Nuclei	Adipose
48	chr2:10824000-10828200	Weak transcription	Psoas Muscle	Psoas
49	chr2:10824000-10828200	Weak transcription	HMEC	breast
50	chr2:10824000-10828200	Weak transcription	Osteobl	bone

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