Variant report

Variant	rs11846137
Chromosome Location	chr14:35661048-35661049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35661003..35662833-chr14:35873537..35876182,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1040839	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498331	1.00[ASN][1000 genomes]
rs11844096	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844257	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846194	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846536	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847511	1.00[ASN][1000 genomes]
rs11847515	1.00[ASN][1000 genomes]
rs11847715	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848312	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848506	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848999	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431902	1.00[ASN][1000 genomes]
rs12434128	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435977	1.00[ASN][1000 genomes]
rs12436274	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436663	1.00[ASN][1000 genomes]
rs12436672	1.00[ASN][1000 genomes]
rs12437331	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17103184	0.82[ASW][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415270	1.00[ASN][1000 genomes]
rs2415271	1.00[ASN][1000 genomes]
rs2415272	1.00[CEU][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34384582	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35239200	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981269	1.00[ASN][1000 genomes]
rs4981271	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982245	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55758852	1.00[ASN][1000 genomes]
rs55911753	1.00[ASN][1000 genomes]
rs56658608	1.00[ASN][1000 genomes]
rs56994597	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59275448	1.00[ASN][1000 genomes]
rs59482644	1.00[ASN][1000 genomes]
rs60871552	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571697	1.00[ASN][1000 genomes]
rs7140254	1.00[ASN][1000 genomes]
rs7141714	1.00[ASN][1000 genomes]
rs7141992	1.00[ASN][1000 genomes]
rs7142246	1.00[ASN][1000 genomes]
rs7144806	1.00[ASN][1000 genomes]
rs7144845	1.00[ASN][1000 genomes]
rs7149841	1.00[ASN][1000 genomes]
rs7150725	1.00[ASN][1000 genomes]
rs7151250	1.00[ASN][1000 genomes]
rs73234501	1.00[ASN][1000 genomes]
rs73236907	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236912	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236913	1.00[ASN][1000 genomes]
rs73236918	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236919	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236938	1.00[ASN][1000 genomes]
rs73236939	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236950	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236968	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236982	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236983	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236995	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239016	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239022	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239081	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239096	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240724	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74043851	1.00[ASN][1000 genomes]
rs7492529	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743524	1.00[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	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1042625	chr14:35546094-35680358	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
18	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
19	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
20	nsv1046680	chr14:35608347-35665374	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11846137	SCGB1D2	trans	brain	seeQTL
rs11846137	SCGB2A2	trans	brain	seeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35603200-35663400	Weak transcription	Fetal Lung	lung
2	chr14:35604600-35667400	Weak transcription	Spleen	Spleen
3	chr14:35607400-35662000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:35607600-35661200	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:35625600-35662200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:35625600-35662600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:35628600-35670200	Weak transcription	Thymus	Thymus
8	chr14:35628600-35672000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:35629600-35666000	Weak transcription	HSMM	muscle
10	chr14:35630000-35665800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:35630200-35665000	Weak transcription	Fetal Kidney	kidney
12	chr14:35630600-35665600	Weak transcription	Hela-S3	cervix
13	chr14:35630600-35665600	Weak transcription	HMEC	breast
14	chr14:35630600-35670200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:35630800-35665600	Weak transcription	Small Intestine	intestine
16	chr14:35630800-35665600	Weak transcription	HUVEC	blood vessel
17	chr14:35630800-35665800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:35636200-35662800	Weak transcription	NH-A	brain
19	chr14:35636800-35661200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:35637000-35661400	Weak transcription	NHDF-Ad	bronchial
21	chr14:35637000-35670200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:35637600-35662600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:35637800-35662400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:35638600-35665400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:35639200-35662600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:35643400-35662000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:35643400-35663000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr14:35643400-35664400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:35643400-35665800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:35643400-35671800	Weak transcription	Fetal Thymus	thymus
31	chr14:35643400-35724000	Weak transcription	Left Ventricle	heart
32	chr14:35643800-35665800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:35647800-35665800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:35649800-35663200	Weak transcription	Fetal Heart	heart
35	chr14:35650200-35663200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr14:35650200-35665600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:35650400-35661600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:35650400-35664000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:35650400-35665000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:35650400-35682200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:35650600-35661200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:35650600-35702600	Weak transcription	Liver	Liver
43	chr14:35650800-35663200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:35650800-35707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:35651000-35670200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr14:35651400-35670200	Weak transcription	Dnd41	blood
47	chr14:35651600-35665600	Weak transcription	Fetal Intestine Large	intestine
48	chr14:35652200-35661400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:35652800-35661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:35654400-35663200	Weak transcription	Primary hematopoietic stem cells	blood

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