Variant report

Variant	rs2723854
Chromosome Location	chr12:104473719-104473720
allele	C/T
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	JUN	chr12:104473628-104473808	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104473419..104476228-chr12:104483759..104485884,2	MCF-7	breast:

Variant related genes	Relation type
HCFC2	TF binding region
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2253274	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2261693	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2264841	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2700511	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723866	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4131751	0.96[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4146833	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4290308	0.84[CHB][hapmap]
rs7135603	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7310193	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
3	chr12:104459400-104476600	Weak transcription	Fetal Kidney	kidney
4	chr12:104459600-104476600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:104459600-104476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:104459800-104476600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:104459800-104476800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:104459800-104477400	Weak transcription	Gastric	stomach
10	chr12:104459800-104477600	Weak transcription	Small Intestine	intestine
11	chr12:104459800-104477800	Weak transcription	Spleen	Spleen
12	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:104460000-104476000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:104460000-104476600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:104460000-104476600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:104460000-104476600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:104460000-104476800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:104460000-104477600	Weak transcription	Aorta	Aorta
19	chr12:104460000-104482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:104460000-104496800	Weak transcription	HepG2	liver
21	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
22	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
23	chr12:104460200-104476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:104460200-104476600	Weak transcription	NHEK	skin
25	chr12:104460600-104476600	Weak transcription	Brain Angular Gyrus	brain
26	chr12:104460600-104480600	Weak transcription	K562	blood
27	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:104461400-104476600	Weak transcription	Fetal Brain Male	brain
29	chr12:104461800-104476800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:104462000-104476600	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:104462600-104476800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:104463000-104476600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:104463200-104476600	Weak transcription	Brain Substantia Nigra	brain
34	chr12:104465200-104480000	Weak transcription	A549	lung
35	chr12:104465400-104474200	Weak transcription	NHLF	lung
36	chr12:104465600-104474200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:104465600-104475000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:104465600-104476200	Weak transcription	HMEC	breast
39	chr12:104465600-104477600	Weak transcription	GM12878-XiMat	blood
40	chr12:104466000-104476000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:104466000-104480600	Weak transcription	Stomach Mucosa	stomach
42	chr12:104466200-104476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:104466200-104476400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:104466200-104476400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:104466200-104476800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:104466200-104480400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:104466800-104475000	Weak transcription	Left Ventricle	heart
48	chr12:104466800-104476600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:104467600-104476600	Weak transcription	Fetal Brain Female	brain
50	chr12:104468200-104476600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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