Variant report

Variant	rs12468515
Chromosome Location	chr2:231638974-231638975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:231638842-231639043	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:231638842-231639740	MCF10A-Er-Src	breast:	n/a	chr2:231639463-231639474 chr2:231639461-231639470 chr2:231639460-231639471 chr2:231639460-231639471 chr2:231639714-231639723
3	POLR2A	chr2:231637878-231639776	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:231638677..231641049-chr2:231650475..231653398,2	K562	blood:
2	chr2:231577168..231578795-chr2:231636093..231639419,3	K562	blood:
3	chr2:231588349..231590579-chr2:231637948..231640911,2	K562	blood:
4	chr2:231637309..231639559-chr2:231647212..231648932,2	K562	blood:
5	chr2:231636739..231639382-chr2:231643298..231648116,4	K562	blood:

Variant related genes	Relation type
CAB39	TF binding region
ENSG00000135932	Chromatin interaction
ENSG00000237758	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10193165	1.00[CHB][hapmap]
rs13021124	1.00[CHB][hapmap]
rs13021655	1.00[CHB][hapmap]
rs16827417	1.00[CHB][hapmap]
rs17276438	1.00[CHB][hapmap]
rs6748334	1.00[CHB][hapmap]

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	nsv834565	chr2:231562672-231785376	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv584675	chr2:231564626-231665946	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr2:231603400-231657400	Weak transcription	Fetal Brain Male	brain
2	chr2:231606200-231643200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:231616200-231647400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:231621000-231647800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:231621200-231639200	Weak transcription	A549	lung
6	chr2:231621400-231642800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:231622200-231639200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:231624400-231639200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:231624400-231642800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:231624400-231646200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:231625400-231639200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:231627200-231656400	Weak transcription	Gastric	stomach
13	chr2:231627400-231643400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:231627400-231645600	Weak transcription	Pancreas	Pancrea
15	chr2:231627600-231646200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:231628200-231642600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:231630400-231646200	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:231630400-231648800	Weak transcription	Aorta	Aorta
19	chr2:231630400-231653400	Weak transcription	Fetal Kidney	kidney
20	chr2:231630400-231654200	Weak transcription	Spleen	Spleen
21	chr2:231630600-231639200	Weak transcription	Small Intestine	intestine
22	chr2:231630600-231646000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:231630600-231646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:231630600-231648000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:231630600-231654200	Weak transcription	Ovary	ovary
26	chr2:231631200-231641800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:231631400-231643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:231631400-231648000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:231631400-231653400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:231631600-231639200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:231631600-231639200	Weak transcription	Psoas Muscle	Psoas
32	chr2:231631600-231641400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:231631600-231642400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:231631600-231645600	Weak transcription	Lung	lung
35	chr2:231631600-231646400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:231631800-231645600	Weak transcription	Esophagus	oesophagus
37	chr2:231631800-231656800	Weak transcription	Colonic Mucosa	Colon
38	chr2:231632200-231643000	Weak transcription	Fetal Lung	lung
39	chr2:231632600-231642800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:231632800-231639000	Weak transcription	HSMM	muscle
41	chr2:231632800-231639200	Weak transcription	Dnd41	blood
42	chr2:231632800-231640000	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:231632800-231640600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:231632800-231642200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:231632800-231649400	Weak transcription	HepG2	liver
46	chr2:231633000-231641200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:231633200-231642600	Weak transcription	Fetal Intestine Small	intestine
48	chr2:231633200-231648400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:231633400-231640000	Weak transcription	Left Ventricle	heart
50	chr2:231633400-231647600	Weak transcription	Liver	Liver

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