Variant report

Variant	rs949956
Chromosome Location	chr12:64188450-64188451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64172631..64179011-chr12:64187703..64190145,6	MCF-7	breast:
2	chr12:64186627..64188743-chr12:64193793..64196445,3	K562	blood:

Variant related genes	Relation type
ENSG00000118600	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11175172	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11175174	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12228292	0.80[EUR][1000 genomes]
rs12301671	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs2279964	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3791156	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581507	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7304120	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs73313417	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs949955	0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv899171	chr12:63916682-64202233	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3485882	chr12:64178755-64196017	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3485883	chr12:64178755-64196017	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3488108	chr12:64178778-64195988	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3488119	chr12:64178778-64195988	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64174400-64189200	Weak transcription	Pancreas	Pancrea
2	chr12:64174400-64200200	Weak transcription	Spleen	Spleen
3	chr12:64174400-64201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:64174400-64203400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:64174400-64204400	Weak transcription	Small Intestine	intestine
6	chr12:64174400-64204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:64174600-64199400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:64174600-64200200	Weak transcription	HSMMtube	muscle
9	chr12:64174600-64200600	Weak transcription	Thymus	Thymus
10	chr12:64174600-64201000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:64174600-64204400	Weak transcription	Colonic Mucosa	Colon
12	chr12:64174800-64199200	Weak transcription	Stomach Mucosa	stomach
13	chr12:64174800-64208000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:64174800-64208000	Weak transcription	Fetal Brain Male	brain
15	chr12:64174800-64208600	Weak transcription	Fetal Brain Female	brain
16	chr12:64175000-64189000	Weak transcription	Fetal Intestine Small	intestine
17	chr12:64175000-64200200	Weak transcription	Brain Anterior Caudate	brain
18	chr12:64175200-64199400	Weak transcription	NHLF	lung
19	chr12:64175200-64202400	Weak transcription	Fetal Heart	heart
20	chr12:64175200-64205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:64175400-64189400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:64175400-64200800	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:64175400-64201800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:64175400-64202600	Weak transcription	Hela-S3	cervix
25	chr12:64175400-64202800	Weak transcription	HUVEC	blood vessel
26	chr12:64175400-64204400	Weak transcription	Brain Angular Gyrus	brain
27	chr12:64175600-64189800	Weak transcription	HepG2	liver
28	chr12:64175600-64208000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:64178000-64209800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:64178400-64188600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:64178400-64204000	Weak transcription	HMEC	breast
32	chr12:64178600-64208400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:64178800-64189000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:64178800-64201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:64181000-64188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:64181000-64200600	Weak transcription	Gastric	stomach
37	chr12:64181000-64204400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:64181200-64204400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:64181200-64205400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:64181800-64201000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:64181800-64201600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:64182000-64208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:64182800-64205200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:64183000-64198200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:64183400-64199000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:64184200-64199200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:64184200-64202000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:64184400-64199200	Weak transcription	Fetal Thymus	thymus
49	chr12:64184400-64199200	Weak transcription	GM12878-XiMat	blood
50	chr12:64184400-64199200	Weak transcription	Monocytes-CD14+_RO01746	blood

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