Variant report

Variant	rs11765552
Chromosome Location	chr7:97822115-97822116
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97802884..97804984-chr7:97821083..97822907,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11762534	0.87[AMR][1000 genomes]
rs11763970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11767962	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12666406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12670686	0.82[AMR][1000 genomes]
rs12674083	0.82[AMR][1000 genomes]
rs13221758	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17435590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17435847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2132276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34307903	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34320230	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3801294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465654	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946915	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6951277	0.83[CEU][hapmap]
rs6958572	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6965016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6967926	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6969384	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6977321	0.96[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7791463	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804318	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808528	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs940432	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11765552	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL
rs11765552	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:97782400-97839800	Weak transcription	Fetal Brain Male	brain
3	chr7:97789200-97829400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:97793200-97822400	Weak transcription	Small Intestine	intestine
5	chr7:97793400-97841000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:97808400-97833600	Weak transcription	Stomach Mucosa	stomach
7	chr7:97808600-97839800	Weak transcription	Right Atrium	heart
8	chr7:97809200-97823600	Weak transcription	HMEC	breast
9	chr7:97812000-97841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:97812800-97826800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr7:97813800-97825400	Strong transcription	HepG2	liver
12	chr7:97814400-97827400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:97814800-97825200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:97815000-97826200	Strong transcription	Liver	Liver
15	chr7:97815000-97827000	Strong transcription	Fetal Intestine Large	intestine
16	chr7:97815600-97826400	Strong transcription	Primary T cells from cord blood	blood
17	chr7:97815600-97827600	Strong transcription	Fetal Intestine Small	intestine
18	chr7:97815800-97822800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:97815800-97826600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:97815800-97827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:97816000-97839200	Weak transcription	Psoas Muscle	Psoas
22	chr7:97816200-97825000	Weak transcription	HSMM	muscle
23	chr7:97816400-97825200	Strong transcription	Fetal Thymus	thymus
24	chr7:97816400-97827400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:97816600-97822200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:97816600-97839800	Weak transcription	NH-A	brain
27	chr7:97816800-97822200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:97816800-97823800	Weak transcription	Osteobl	bone
29	chr7:97816800-97825200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:97816800-97825800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:97816800-97826600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:97817000-97826200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr7:97817000-97828800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr7:97817200-97826600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr7:97817400-97827000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:97817600-97826000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:97817800-97826200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:97817800-97826800	Strong transcription	Esophagus	oesophagus
39	chr7:97818200-97825800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:97818200-97827200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr7:97818400-97823400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:97818400-97823600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:97818400-97824600	Strong transcription	Aorta	Aorta
44	chr7:97818400-97824800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:97818400-97825400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:97818400-97825800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:97818400-97825800	Strong transcription	Gastric	stomach
48	chr7:97818400-97825800	Strong transcription	Lung	lung
49	chr7:97818400-97825800	Strong transcription	Thymus	Thymus
50	chr7:97818400-97826800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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