Variant report

Variant	rs7953290
Chromosome Location	chr12:122729336-122729337
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122708212..122711575-chr12:122728870..122731258,3	MCF-7	breast:
2	chr12:122724422..122726051-chr12:122727758..122730690,2	K562	blood:

Variant related genes	Relation type
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11057290	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061368	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11834748	1.00[CHB][hapmap]
rs11836373	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11837919	1.00[CHB][hapmap]
rs12321299	1.00[CHB][hapmap]
rs12580043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2089887	1.00[ASW][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35422129	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58134429	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60995900	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954363	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954365	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954367	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954368	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954370	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954371	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954376	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954377	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954378	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954381	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954382	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954383	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954393	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954394	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954395	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954397	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61955587	0.87[AMR][1000 genomes]
rs61955588	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61955589	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7132789	0.91[EUR][1000 genomes]
rs7303975	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311354	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7315448	1.00[CHB][hapmap]
rs7964780	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968764	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7979955	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907485	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7953290	DIABLO	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122711400-122734200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:122711800-122734400	Weak transcription	Stomach Mucosa	stomach
3	chr12:122711800-122734800	Weak transcription	Fetal Brain Male	brain
4	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
6	chr12:122712000-122730000	Strong transcription	Fetal Intestine Large	intestine
7	chr12:122712200-122730800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:122712400-122748600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:122713800-122729400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:122713800-122730800	Strong transcription	Adipose Nuclei	Adipose
11	chr12:122713800-122731000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:122713800-122731000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:122713800-122748800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:122714000-122729600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:122714200-122729800	Strong transcription	Fetal Intestine Small	intestine
16	chr12:122714400-122729400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:122714400-122729400	Strong transcription	Fetal Stomach	stomach
18	chr12:122714400-122729600	Strong transcription	Thymus	Thymus
19	chr12:122714600-122729400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:122715000-122730600	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:122716000-122749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:122716000-122750200	Weak transcription	Fetal Kidney	kidney
23	chr12:122716200-122729400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:122717200-122750000	Weak transcription	Fetal Heart	heart
25	chr12:122719000-122745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:122719600-122735000	Weak transcription	NHLF	lung
27	chr12:122720400-122734800	Weak transcription	NHEK	skin
28	chr12:122720600-122732200	Weak transcription	HUVEC	blood vessel
29	chr12:122720600-122732600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:122720600-122733000	Weak transcription	A549	lung
31	chr12:122720600-122734000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:122720600-122750000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:122720600-122750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:122721200-122729400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:122721600-122732600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:122721600-122750400	Weak transcription	Small Intestine	intestine
37	chr12:122722000-122732200	Weak transcription	HSMM	muscle
38	chr12:122722000-122732600	Weak transcription	Pancreas	Pancrea
39	chr12:122722000-122741000	Weak transcription	Brain Substantia Nigra	brain
40	chr12:122722000-122750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:122722600-122734400	Weak transcription	Osteobl	bone
42	chr12:122723000-122729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:122723000-122735800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:122723200-122730000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:122723600-122734200	Weak transcription	NHDF-Ad	bronchial
46	chr12:122723800-122733200	Weak transcription	HMEC	breast
47	chr12:122723800-122734200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:122724000-122734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:122724400-122729400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:122724600-122729600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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