Variant report

Variant	rs2871131
Chromosome Location	chr12:122152839-122152840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122148985..122154094-chr12:122210649..122217008,11	MCF-7	breast:
2	chr12:122151601..122153571-chr12:122191520..122194326,2	MCF-7	breast:
3	chr12:122148639..122153380-chr12:122238008..122242328,5	MCF-7	breast:
4	chr12:122152731..122155378-chr12:122233490..122235534,2	MCF-7	breast:
5	chr12:122151917..122156679-chr12:122158990..122161990,5	MCF-7	breast:
6	chr12:122125213..122127538-chr12:122150948..122152845,2	MCF-7	breast:
7	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
8	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000272849	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4760124	0.85[CEU][hapmap]
rs56331304	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60596226	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73227955	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73229914	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73229915	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7398276	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122151600-122160800	Weak transcription	Aorta	Aorta
2	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:122151800-122153000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:122151800-122153200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:122151800-122154800	Weak transcription	Fetal Kidney	kidney
6	chr12:122151800-122155000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:122151800-122155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:122151800-122158000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:122151800-122159200	Weak transcription	Esophagus	oesophagus
10	chr12:122151800-122160600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:122152000-122153000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:122152000-122153200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:122152000-122153400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:122152000-122153400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:122152000-122153400	Weak transcription	Thymus	Thymus
16	chr12:122152000-122153600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:122152000-122154600	Weak transcription	HUVEC	blood vessel
18	chr12:122152000-122154800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:122152000-122154800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:122152000-122156600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:122152000-122161200	Weak transcription	Gastric	stomach
22	chr12:122152000-122162600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:122152000-122164000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:122152000-122164000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:122152000-122164600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:122152000-122166400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:122152000-122167400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:122152000-122182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:122152200-122153000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:122152200-122153000	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr12:122152200-122153200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:122152200-122153200	Weak transcription	Brain Angular Gyrus	brain
34	chr12:122152200-122153200	Weak transcription	Fetal Intestine Large	intestine
35	chr12:122152200-122153200	Weak transcription	GM12878-XiMat	blood
36	chr12:122152200-122153400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:122152200-122153400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:122152200-122153400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:122152200-122153400	Weak transcription	Brain Anterior Caudate	brain
40	chr12:122152200-122153400	Enhancers	K562	blood
41	chr12:122152200-122153400	Weak transcription	NHEK	skin
42	chr12:122152200-122153600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:122152200-122154000	Weak transcription	Osteobl	bone
44	chr12:122152200-122154200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:122152200-122154200	Enhancers	Psoas Muscle	Psoas
46	chr12:122152200-122154400	Enhancers	HepG2	liver
47	chr12:122152200-122154600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:122152200-122154600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:122152200-122154800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:122152200-122154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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