Variant report

Variant	rs7311062
Chromosome Location	chr12:122887963-122887964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:122887591-122888084	GM12878	blood:	n/a	n/a
2	EBF1	chr12:122887708-122887996	GM12878	blood:	n/a	n/a
3	RUNX3	chr12:122887656-122888104	GM12878	blood:	n/a	n/a
4	CTCF	chr12:122887880-122888030	HEEpiC	esophagus:	n/a	n/a
5	CTCF	chr12:122887840-122887990	GM12869	blood:	n/a	n/a
6	CTCF	chr12:122887780-122888070	A549	lung:	n/a	n/a
7	MTA3	chr12:122887647-122888179	GM12878	blood:	n/a	n/a
8	BATF	chr12:122887668-122888043	GM12878	blood:	n/a	n/a
9	NFIC	chr12:122887584-122888124	GM12878	blood:	n/a	n/a
10	EBF1	chr12:122887655-122887976	GM12878	blood:	n/a	n/a
11	CTCF	chr12:122887820-122887970	GM12873	blood:	n/a	n/a
12	RUNX3	chr12:122887683-122888042	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122887097..122891186-chr12:122896000..122898774,4	MCF-7	breast:
2	chr12:122887135..122888989-chr12:122893412..122896084,2	MCF-7	breast:
3	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:

No data

Variant related genes	Relation type
CLIP1	TF binding region
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12297174	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300062	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303070	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303304	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305053	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312090	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314651	0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs12319914	1.00[AMR][1000 genomes]
rs12320418	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294383	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976580	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7977242	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7978870	0.81[MKK][hapmap]
rs7980777	0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][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	esv3374371	chr12:122887933-122888205	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122860600-122905000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:122862800-122895600	Weak transcription	Small Intestine	intestine
3	chr12:122863400-122897400	Weak transcription	Fetal Brain Female	brain
4	chr12:122863400-122897800	Weak transcription	Brain Substantia Nigra	brain
5	chr12:122863800-122905000	Weak transcription	Dnd41	blood
6	chr12:122866600-122888400	Weak transcription	Gastric	stomach
7	chr12:122878800-122888400	Weak transcription	Primary T cells from cord blood	blood
8	chr12:122884400-122889800	Weak transcription	Aorta	Aorta
9	chr12:122884600-122888400	Weak transcription	Psoas Muscle	Psoas
10	chr12:122884600-122897600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:122884600-122905200	Weak transcription	Colonic Mucosa	Colon
12	chr12:122884800-122888400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:122885200-122888000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:122885200-122888000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:122885200-122888400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:122885200-122888400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:122885200-122888400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:122885200-122888400	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:122885200-122888400	Weak transcription	Fetal Stomach	stomach
20	chr12:122885200-122888400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:122885200-122888400	Weak transcription	Spleen	Spleen
22	chr12:122885200-122889000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:122885200-122890000	Weak transcription	Fetal Intestine Large	intestine
24	chr12:122885200-122890400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:122885200-122890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:122885200-122891200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:122885200-122891200	Weak transcription	Adipose Nuclei	Adipose
28	chr12:122885200-122891200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:122885200-122891600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:122885200-122891600	Weak transcription	Brain Angular Gyrus	brain
31	chr12:122885200-122893800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:122885200-122897800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:122885200-122897800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:122885200-122902400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:122885200-122902600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:122885200-122904600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:122885200-122905200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:122885200-122905400	Weak transcription	Fetal Thymus	thymus
39	chr12:122885200-122905400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:122885200-122906000	Weak transcription	Ovary	ovary
41	chr12:122885400-122888400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:122885400-122888400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:122885400-122891400	Weak transcription	Fetal Kidney	kidney
44	chr12:122885400-122891800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:122885400-122895400	Weak transcription	Fetal Lung	lung
46	chr12:122885400-122896000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:122885400-122898200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:122885400-122905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:122885600-122888000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:122885600-122890000	Enhancers	Skeletal Muscle Female	skeletal muscle

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