Variant report

Variant	rs4251488
Chromosome Location	chr12:44169901-44169902
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44169518..44170515-chr12:44199474..44200437,2	MCF-7	breast:
2	chr12:44152066..44153921-chr12:44167633..44170517,2	MCF-7	breast:
3	chr12:44169860..44172008-chr12:44220305..44222660,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198001	Chromatin interaction
ENSG00000129317	Chromatin interaction
ENSG00000151239	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12302873	0.82[JPT][hapmap]
rs12305949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12315211	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs12318086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17093639	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs4251429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251527	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57291280	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7956245	1.00[CEU][hapmap]
rs9971859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9971895	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44153800-44174200	Weak transcription	Right Ventricle	heart
2	chr12:44154000-44174000	Weak transcription	HSMMtube	muscle
3	chr12:44154200-44172800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:44154200-44189600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:44154200-44189600	Weak transcription	A549	lung
6	chr12:44154200-44194400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:44154200-44199200	Weak transcription	Gastric	stomach
8	chr12:44154400-44174200	Weak transcription	Colonic Mucosa	Colon
9	chr12:44154400-44178000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:44154400-44181200	Weak transcription	Aorta	Aorta
11	chr12:44154400-44189400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:44154400-44189400	Weak transcription	Fetal Kidney	kidney
13	chr12:44154600-44172200	Weak transcription	Ovary	ovary
14	chr12:44154600-44172200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:44154600-44172600	Weak transcription	Lung	lung
16	chr12:44154600-44172800	Weak transcription	Brain Anterior Caudate	brain
17	chr12:44154600-44174400	Weak transcription	Fetal Intestine Small	intestine
18	chr12:44154600-44174800	Weak transcription	Small Intestine	intestine
19	chr12:44154600-44178000	Weak transcription	Fetal Stomach	stomach
20	chr12:44154600-44178000	Weak transcription	Spleen	Spleen
21	chr12:44154600-44189400	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:44154600-44199000	Weak transcription	Stomach Mucosa	stomach
23	chr12:44154800-44173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:44156200-44172800	Weak transcription	Pancreas	Pancrea
25	chr12:44156600-44189400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:44158200-44182800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:44159000-44174800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:44159000-44177800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:44159000-44189000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:44159200-44188600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:44159400-44187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:44160400-44172600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:44160600-44174600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:44160600-44182400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:44160600-44183600	Weak transcription	Fetal Heart	heart
36	chr12:44160800-44172200	Weak transcription	HMEC	breast
37	chr12:44160800-44174600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:44160800-44174800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:44160800-44174800	Weak transcription	NHEK	skin
40	chr12:44161200-44182400	Strong transcription	Primary hematopoietic stem cells	blood
41	chr12:44161600-44183400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:44161600-44183400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:44161800-44170400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:44161800-44183800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:44162000-44183200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:44162000-44183200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:44162200-44180800	Strong transcription	HSMM	muscle
48	chr12:44162200-44181600	Strong transcription	Liver	Liver
49	chr12:44162200-44182200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr12:44162200-44182200	Strong transcription	Rectal Mucosa Donor 29	rectum

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