Variant report

Variant	rs13231388
Chromosome Location	chr7:7711883-7711884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7702478..7704915-chr7:7709957..7711916,2	MCF-7	breast:
2	chr7:7708519..7710790-chr7:7711847..7714046,2	K562	blood:
3	chr7:7710276..7712409-chr7:7714485..7717060,3	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1012996	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1012997	1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[ASN][1000 genomes]
rs10227168	0.84[ASN][1000 genomes]
rs10227236	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10229371	0.85[AFR][1000 genomes]
rs10240471	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10246966	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10257718	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10262410	0.84[LWK][hapmap]
rs10263415	0.82[GIH][hapmap]
rs10277292	0.94[ASW][hapmap];0.91[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs10278708	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12111719	0.84[ASN][1000 genomes]
rs12112300	0.83[ASN][1000 genomes]
rs12702634	0.87[ASN][1000 genomes]
rs13221027	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13239834	0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs13242539	0.90[CHB][hapmap]
rs1544456	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1557997	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1557998	0.87[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17169379	0.92[AFR][1000 genomes]
rs2057929	0.83[YRI][hapmap];0.88[AFR][1000 genomes]
rs2057931	0.90[AFR][1000 genomes]
rs2107999	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2108000	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4140804	0.87[AFR][1000 genomes]
rs4313075	0.84[ASN][1000 genomes]
rs6944960	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6947203	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6966464	0.84[ASN][1000 genomes]
rs717841	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7781054	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7783714	0.91[CEU][hapmap]
rs7791564	0.84[ASW][hapmap];0.85[GIH][hapmap];0.88[LWK][hapmap];0.84[MKK][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs7795116	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs7800702	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7800719	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7800853	0.87[ASN][1000 genomes]
rs7804775	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[ASN][1000 genomes]
rs886725	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs886726	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9648616	0.85[CHB][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv606045	chr7:7704889-7755491	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7682000-7713800	Weak transcription	Left Ventricle	heart
2	chr7:7687800-7717400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:7690600-7713800	Weak transcription	Fetal Intestine Large	intestine
4	chr7:7691800-7717600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:7692400-7717600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:7693000-7719200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:7693400-7714800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:7694800-7718400	Weak transcription	Ovary	ovary
9	chr7:7696600-7715400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:7699800-7715400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:7701400-7713600	Weak transcription	Thymus	Thymus
12	chr7:7702000-7717000	Weak transcription	Fetal Stomach	stomach
13	chr7:7702000-7717400	Weak transcription	Fetal Intestine Small	intestine
14	chr7:7702200-7715000	Weak transcription	Lung	lung
15	chr7:7702400-7715000	Weak transcription	Adipose Nuclei	Adipose
16	chr7:7702400-7715400	Weak transcription	Pancreas	Pancrea
17	chr7:7702400-7715800	Weak transcription	Spleen	Spleen
18	chr7:7703400-7726800	Weak transcription	Brain Germinal Matrix	brain
19	chr7:7704200-7713600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:7704200-7717600	Weak transcription	Fetal Kidney	kidney
21	chr7:7704400-7713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:7704400-7714200	Weak transcription	Fetal Lung	lung
23	chr7:7704400-7715200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:7704400-7715400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:7704400-7720800	Weak transcription	Stomach Mucosa	stomach
26	chr7:7704400-7721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:7704400-7726400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:7705400-7713600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:7705600-7713600	Weak transcription	Hela-S3	cervix
30	chr7:7706000-7715200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:7706000-7715400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:7706000-7715400	Weak transcription	Esophagus	oesophagus
33	chr7:7706800-7743200	Weak transcription	Gastric	stomach
34	chr7:7707000-7719400	Weak transcription	Brain Substantia Nigra	brain
35	chr7:7707200-7713600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:7707400-7714600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:7707600-7712000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:7707800-7718200	Weak transcription	HSMMtube	muscle
39	chr7:7708600-7713600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:7708600-7714800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:7708600-7738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:7708800-7720800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:7709000-7715000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:7709200-7720800	Weak transcription	Psoas Muscle	Psoas
45	chr7:7709400-7713800	Weak transcription	Primary B cells from cord blood	blood
46	chr7:7709800-7712800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:7710000-7712000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr7:7710200-7713600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:7710400-7713000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:7710600-7712200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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