Variant report

Variant	rs952631
Chromosome Location	chr12:124469694-124469695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124468378..124471325-chr12:124481728..124484579,2	K562	blood:
2	chr12:124466117..124470076-chr12:124471050..124474861,6	MCF-7	breast:
3	chr12:124467883..124469775-chr12:124477187..124479710,2	MCF-7	breast:
4	chr12:124462440..124465412-chr12:124468868..124471701,4	K562	blood:
5	chr12:124461201..124463907-chr12:124466692..124470119,3	MCF-7	breast:
6	chr12:124469541..124471956-chr12:124474758..124478951,5	K562	blood:

Variant related genes	Relation type
ENSG00000179195	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11608738	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs11829426	1.00[EUR][1000 genomes]
rs11835416	1.00[MEX][hapmap]
rs12099459	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1343668	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1873224	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55680811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55996758	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56169314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57352016	1.00[EUR][1000 genomes]
rs57531416	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57818143	0.98[AFR][1000 genomes]
rs58157153	0.95[AFR][1000 genomes]
rs58498731	1.00[EUR][1000 genomes]
rs58556542	1.00[EUR][1000 genomes]
rs58621770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58788131	1.00[EUR][1000 genomes]
rs59002473	1.00[EUR][1000 genomes]
rs59035549	1.00[EUR][1000 genomes]
rs60560821	1.00[EUR][1000 genomes]
rs60980349	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61151021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61740383	1.00[EUR][1000 genomes]
rs61749063	1.00[EUR][1000 genomes]
rs7301547	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409428	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7976904	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939464	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1818097	chr12:124465667-124488972	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124459000-124470800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:124459000-124470800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:124459000-124472200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:124459000-124472600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:124459000-124472800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:124459000-124473400	Weak transcription	Esophagus	oesophagus
7	chr12:124459200-124473200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:124459200-124473400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:124459200-124477000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:124459200-124477200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:124459400-124470800	Weak transcription	Primary T cells from cord blood	blood
12	chr12:124459400-124470800	Weak transcription	HSMMtube	muscle
13	chr12:124459400-124471000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:124459400-124472000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:124459400-124472600	Weak transcription	Thymus	Thymus
16	chr12:124459400-124474800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:124459400-124474800	Weak transcription	Colonic Mucosa	Colon
18	chr12:124459600-124470200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:124459600-124471800	Weak transcription	NH-A	brain
20	chr12:124459600-124472600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:124459600-124473200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:124459600-124473400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:124459600-124474600	Weak transcription	Stomach Mucosa	stomach
24	chr12:124459800-124471600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:124459800-124473200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:124460000-124472000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:124460200-124474000	Weak transcription	Small Intestine	intestine
28	chr12:124460400-124479800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:124460800-124473200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:124460800-124475000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:124461000-124470400	Weak transcription	Primary B cells from cord blood	blood
32	chr12:124461200-124470200	Weak transcription	Hela-S3	cervix
33	chr12:124461200-124472600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:124461200-124472600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:124461200-124473600	Weak transcription	HMEC	breast
36	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:124461400-124470000	Weak transcription	Placenta	Placenta
38	chr12:124461400-124470800	Weak transcription	NHLF	lung
39	chr12:124461400-124473400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:124462200-124470800	Weak transcription	Fetal Kidney	kidney
41	chr12:124462200-124472000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:124462200-124472200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:124462400-124470600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:124462400-124472000	Weak transcription	HUVEC	blood vessel
45	chr12:124462400-124473200	Weak transcription	NHEK	skin
46	chr12:124462600-124471000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:124463200-124472200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:124463600-124472600	Weak transcription	HSMM	muscle
49	chr12:124464600-124472400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:124465000-124470400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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