Variant report

Variant	rs11684321
Chromosome Location	chr2:112775750-112775751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112669943..112672736-chr2:112773661..112776341,2	K562	blood:
2	chr2:112771274..112772953-chr2:112774315..112776787,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10169022	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap]
rs10176769	0.85[CEU][hapmap];0.83[GIH][hapmap]
rs10192602	0.80[ASN][1000 genomes]
rs10192728	0.85[CEU][hapmap];0.83[GIH][hapmap]
rs10195619	0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs10496439	0.92[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs10864895	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1122970	0.96[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs11673729	0.92[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs11674226	0.96[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs11674883	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs11674891	0.96[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs11675946	0.88[CEU][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11678522	0.85[EUR][1000 genomes]
rs11679593	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11679801	0.96[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs11680463	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11681063	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11682629	0.96[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11683694	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs11685190	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11686647	0.86[EUR][1000 genomes]
rs11687451	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs11692445	0.96[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs12995767	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13001162	0.96[CEU][hapmap];0.84[CHB][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13003919	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13006203	0.92[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs13006228	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13013340	0.90[EUR][1000 genomes]
rs13013943	0.81[EUR][1000 genomes]
rs13020304	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13020353	0.93[EUR][1000 genomes]
rs13025651	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13027171	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs13033393	0.96[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs1554216	0.96[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap]
rs17174697	0.92[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs17779482	0.92[CEU][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs1967530	0.84[EUR][1000 genomes]
rs2271701	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2871876	0.83[EUR][1000 genomes]
rs34128716	0.82[EUR][1000 genomes]
rs34240639	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34527376	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34705448	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34875611	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34928784	0.84[EUR][1000 genomes]
rs34974369	0.86[EUR][1000 genomes]
rs34983493	0.84[EUR][1000 genomes]
rs35189728	0.94[EUR][1000 genomes]
rs35379879	0.94[EUR][1000 genomes]
rs35382200	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35471545	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35643003	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35757708	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3761699	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs3811633	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3811634	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4264571	0.92[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs4318395	0.80[CEU][hapmap]
rs4441478	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848229	0.96[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes]
rs4848238	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4848241	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4848861	0.92[CEU][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs4848874	0.96[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs4848899	0.94[EUR][1000 genomes]
rs4848958	0.84[CHB][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4848971	0.96[CEU][hapmap];0.84[CHB][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4848973	0.96[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4848979	0.85[CEU][hapmap];0.82[GIH][hapmap]
rs4848980	0.96[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs56361454	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541942	0.84[EUR][1000 genomes]
rs6722814	0.85[CEU][hapmap];0.83[GIH][hapmap]
rs6731215	0.84[EUR][1000 genomes]
rs6736093	0.92[CEU][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs6743523	0.96[CEU][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs6754526	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6755101	0.84[EUR][1000 genomes]
rs71414616	0.91[EUR][1000 genomes]
rs7349221	0.92[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs7370418	0.90[EUR][1000 genomes]
rs74182850	0.86[EUR][1000 genomes]
rs7422195	0.94[ASN][1000 genomes]
rs7578435	0.94[EUR][1000 genomes]
rs7595212	0.92[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs7604403	0.92[CEU][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs870761	0.96[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs870763	0.96[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv999746	chr2:112691270-112796083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2760607	chr2:112691282-112803423	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv431491	chr2:112699350-112793981	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv515698	chr2:112699350-112795908	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933392	chr2:112747230-112792349	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11684321	FBLN7	cis	parietal	SCAN
rs11684321	POLR1B	cis	cerebellum	SCAN
rs11684321	MERTK	cis	multi-tissue	Pritchard

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112713200-112790600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:112718400-112776400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:112723400-112789200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:112733200-112789200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:112741400-112777000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:112741400-112777000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:112742000-112776800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:112744200-112777000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:112744200-112777200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:112753000-112784000	Weak transcription	Fetal Lung	lung
11	chr2:112755400-112789200	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:112758200-112789600	Weak transcription	Fetal Kidney	kidney
13	chr2:112759200-112777000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:112761800-112784000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:112762000-112777000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:112762200-112782600	Weak transcription	Esophagus	oesophagus
17	chr2:112765800-112789600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:112766800-112777200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:112768000-112789200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:112768600-112789600	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:112768800-112777000	Weak transcription	Lung	lung
22	chr2:112768800-112778600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:112769000-112776600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:112769000-112776600	Weak transcription	K562	blood
25	chr2:112769000-112779000	Weak transcription	Placenta	Placenta
26	chr2:112769000-112789000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:112769000-112789200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:112769200-112780000	Weak transcription	Right Ventricle	heart
29	chr2:112769200-112781200	Weak transcription	Pancreas	Pancrea
30	chr2:112769200-112788400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:112769200-112789200	Weak transcription	Adipose Nuclei	Adipose
32	chr2:112769600-112777000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:112769600-112778400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:112769600-112791200	Weak transcription	Colonic Mucosa	Colon
35	chr2:112769800-112779600	Weak transcription	Spleen	Spleen
36	chr2:112770000-112782400	Weak transcription	Ovary	ovary
37	chr2:112770200-112781400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:112770200-112789400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:112770400-112781800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:112770600-112787600	Weak transcription	Brain Angular Gyrus	brain
41	chr2:112770800-112776600	Weak transcription	Aorta	Aorta
42	chr2:112771200-112777000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:112771200-112778800	Weak transcription	Brain Substantia Nigra	brain
44	chr2:112771400-112776000	Weak transcription	Fetal Intestine Large	intestine
45	chr2:112771400-112776000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:112771400-112777000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:112771400-112778200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:112771400-112778200	Weak transcription	Fetal Stomach	stomach
49	chr2:112771400-112778800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:112771400-112779000	Weak transcription	Left Ventricle	heart

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