Variant report

Variant	rs11984183
Chromosome Location	chr7:97884915-97884916
allele	C/G
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	ELK1	chr7:97884591-97884931	K562	blood:	n/a	n/a
2	STAT5A	chr7:97884528-97885082	K562	blood:	n/a	n/a
3	STAT3	chr7:97884639-97884972	MCF10A-Er-Src	breast:	n/a	chr7:97884819-97884830 chr7:97884798-97884809
4	STAT3	chr7:97884684-97884922	MCF10A-Er-Src	breast:	n/a	chr7:97884819-97884830 chr7:97884798-97884809
5	STAT5A	chr7:97884540-97884946	K562	blood:	n/a	n/a
6	SRF	chr7:97884562-97884969	K562	blood:	n/a	chr7:97884762-97884780
7	STAT1	chr7:97884421-97885136	Hela-S3	cervix:	n/a	chr7:97884798-97884809
8	STAT3	chr7:97884644-97884972	MCF10A-Er-Src	breast:	n/a	chr7:97884819-97884830 chr7:97884798-97884809

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BRI3-2	chr7:97881470-97887682	NONHSAT122186

Variant related genes	Relation type
TECPR1	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10249366	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1076272	0.82[CEU][hapmap]
rs10953247	0.90[EUR][1000 genomes]
rs10953256	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs10953257	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs1132971	0.81[CHB][hapmap]
rs11761574	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11771397	0.96[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11771953	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11772438	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773779	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533016	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12539676	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12669622	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12704981	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12704983	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs12728	0.81[CHB][hapmap]
rs13232181	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs1468338	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs17436977	0.82[CEU][hapmap];0.88[CHB][hapmap]
rs1859482	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs2107716	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs2270600	0.91[EUR][1000 genomes]
rs2270604	0.96[CEU][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286074	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs2291747	0.82[CEU][hapmap]
rs2394827	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394854	0.81[CEU][hapmap]
rs28566958	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28662014	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3779193	0.81[CEU][hapmap]
rs3779194	0.81[CEU][hapmap]
rs3801254	0.81[CEU][hapmap]
rs3801255	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs3801256	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs3801263	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs3801264	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs3823740	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs4727388	0.96[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4727390	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4729421	0.96[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56098787	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61575270	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62479836	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62479838	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6465664	0.81[CHB][hapmap]
rs6465665	0.80[CHB][hapmap]
rs6465666	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6465667	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6465672	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6465675	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6465680	0.80[CEU][hapmap]
rs6465682	0.82[CEU][hapmap]
rs6944262	0.81[CEU][hapmap]
rs6945554	0.81[CHB][hapmap]
rs6947340	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6948540	0.82[CHB][hapmap]
rs6949718	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6951479	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955647	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs6963210	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6967576	0.82[CEU][hapmap]
rs6968193	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs6970801	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6970990	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6975156	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs736753	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs7458551	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs747631	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs747632	0.96[CEU][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7776638	0.81[CEU][hapmap]
rs7777415	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs7781916	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs7787309	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7789380	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs7796762	0.81[CHB][hapmap]
rs7797943	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs7807455	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs7807555	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs7812180	0.81[CEU][hapmap]
rs954050	0.96[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
8	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv1800947	chr7:97857675-97889672	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11984183	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL
rs11984183	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97882200-97885800	Weak transcription	Ovary	ovary
2	chr7:97882200-97886200	Weak transcription	Aorta	Aorta
3	chr7:97882200-97887800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:97882200-97889400	Weak transcription	Small Intestine	intestine
5	chr7:97882200-97893200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:97882400-97888600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:97882400-97888600	Weak transcription	Fetal Lung	lung
8	chr7:97882400-97890800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:97882400-97894400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:97882400-97895200	Weak transcription	NHDF-Ad	bronchial
11	chr7:97882400-97895400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:97882600-97885600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:97882600-97885800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:97882600-97886200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:97882600-97887600	Weak transcription	HMEC	breast
16	chr7:97882600-97888600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:97882600-97889000	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:97882600-97890000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:97882600-97890200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:97882600-97892400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:97882600-97892800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:97882600-97893000	Weak transcription	Brain Germinal Matrix	brain
23	chr7:97882800-97885800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:97882800-97885800	Weak transcription	Fetal Brain Female	brain
25	chr7:97882800-97885800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:97882800-97885800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:97882800-97886200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:97882800-97886200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:97882800-97886200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:97882800-97886200	Weak transcription	Esophagus	oesophagus
31	chr7:97882800-97886200	Weak transcription	Fetal Stomach	stomach
32	chr7:97882800-97890000	Weak transcription	HSMMtube	muscle
33	chr7:97882800-97895000	Weak transcription	HUVEC	blood vessel
34	chr7:97882800-97895200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:97882800-97895200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:97882800-97895200	Weak transcription	NH-A	brain
37	chr7:97882800-97895200	Weak transcription	NHLF	lung
38	chr7:97883000-97885400	Weak transcription	NHEK	skin
39	chr7:97883000-97885600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:97883000-97885600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:97883000-97885600	Weak transcription	Adipose Nuclei	Adipose
42	chr7:97883000-97885600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:97883000-97885800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:97883000-97885800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:97883000-97885800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:97883000-97885800	Weak transcription	Liver	Liver
47	chr7:97883000-97885800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:97883000-97885800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:97883000-97885800	Weak transcription	Placenta	Placenta
50	chr7:97883000-97885800	Weak transcription	Fetal Thymus	thymus

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