Variant report

Variant	rs7133640
Chromosome Location	chr12:25388316-25388317
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:25386176..25388499-chr12:25396518..25399211,2	K562	blood:
2	chr12:25387227..25389943-chr12:25538363..25541492,5	MCF-7	breast:
3	chr12:25387876..25389586-chr12:25395973..25398657,2	MCF-7	breast:
4	chr12:25383629..25385819-chr12:25387007..25389095,3	K562	blood:
5	chr12:25387866..25389921-chr12:25394570..25396396,2	K562	blood:
6	chr12:25356292..25358617-chr12:25386148..25388337,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10505959	0.90[JPT][hapmap]
rs10743548	0.86[EUR][1000 genomes]
rs10771175	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs10771176	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs10771183	0.86[EUR][1000 genomes]
rs10842470	1.00[JPT][hapmap]
rs10842490	0.89[JPT][hapmap]
rs10842515	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10842516	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10842517	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11047878	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11047879	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11047885	0.95[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11047903	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11047904	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11047912	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11047914	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047917	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1137282	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11836509	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12227966	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs12228638	0.89[JPT][hapmap]
rs12367971	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs17388573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17388587	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17389103	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3924650	0.93[CEU][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4313666	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs4368021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4606562	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61761150	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134616	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs7298444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303373	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs7309670	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311692	0.93[ASN][1000 genomes]
rs7315339	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7960917	0.94[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7964623	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7965763	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7968023	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971062	0.80[JPT][hapmap]
rs7971288	0.89[JPT][hapmap]
rs7973450	0.94[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7973623	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7976254	0.90[JPT][hapmap]
rs7976355	1.00[JPT][hapmap]
rs7977616	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7980769	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7980834	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv898923	chr12:25357680-25397282	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv898924	chr12:25357680-25398972	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv557798	chr12:25359841-25397282	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv898925	chr12:25367669-25398972	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv898926	chr12:25367669-25408047	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv470279	chr12:25384658-25399121	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25348600-25402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:25348600-25403200	Weak transcription	Spleen	Spleen
3	chr12:25349000-25402400	Weak transcription	Right Ventricle	heart
4	chr12:25349400-25388600	Weak transcription	NHLF	lung
5	chr12:25349400-25393800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:25349400-25396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:25349400-25401800	Weak transcription	Fetal Brain Male	brain
8	chr12:25349400-25402600	Weak transcription	Brain Germinal Matrix	brain
9	chr12:25349600-25389000	Weak transcription	Brain Angular Gyrus	brain
10	chr12:25349600-25394600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:25349600-25402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:25349600-25402600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:25349600-25402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:25349600-25402600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:25349800-25390200	Weak transcription	K562	blood
16	chr12:25350000-25402800	Weak transcription	Ovary	ovary
17	chr12:25354000-25402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:25354400-25402200	Weak transcription	Pancreas	Pancrea
19	chr12:25354600-25389000	Weak transcription	HSMMtube	muscle
20	chr12:25355800-25396000	Weak transcription	Small Intestine	intestine
21	chr12:25356600-25402600	Weak transcription	Fetal Heart	heart
22	chr12:25360800-25388600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:25360800-25389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:25360800-25402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:25361000-25388600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:25361000-25388800	Weak transcription	Esophagus	oesophagus
27	chr12:25361000-25395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:25361000-25402600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:25361000-25402600	Weak transcription	Fetal Brain Female	brain
30	chr12:25361200-25388400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:25361200-25389200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:25362000-25402400	Weak transcription	HepG2	liver
33	chr12:25365200-25393800	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:25372400-25402800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:25373000-25393800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:25374400-25391600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:25374600-25388400	Weak transcription	Thymus	Thymus
38	chr12:25374600-25388600	Weak transcription	Lung	lung
39	chr12:25374800-25402600	Weak transcription	Placenta	Placenta
40	chr12:25375000-25388600	Weak transcription	Fetal Stomach	stomach
41	chr12:25375000-25402800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:25376800-25388600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:25377000-25389000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:25377400-25388600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:25377800-25402200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:25377800-25402200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:25378000-25388400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:25378600-25388800	Weak transcription	HSMM	muscle
49	chr12:25378800-25401800	Weak transcription	Adipose Nuclei	Adipose
50	chr12:25379000-25388600	Weak transcription	Osteobl	bone

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