Variant report

Variant	rs12464895
Chromosome Location	chr2:113278700-113278701
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	POLR2A	chr2:113278675-113278875	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113277911..113280966-chr2:113298764..113301565,3	MCF-7	breast:
2	chr2:113275893..113278850-chr2:113299428..113303764,5	K562	blood:

Variant related genes	Relation type
TTL	TF binding region
ENSG00000125630	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4299347	1.00[YRI][hapmap]
rs4352239	1.00[YRI][hapmap]
rs4578863	1.00[YRI][hapmap]
rs7601200	1.00[YRI][hapmap]

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	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113241200-113286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:113241400-113279200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:113241600-113292400	Weak transcription	Small Intestine	intestine
4	chr2:113241800-113286000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:113241800-113286200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:113260800-113279400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:113260800-113286200	Weak transcription	Fetal Brain Male	brain
8	chr2:113260800-113298800	Weak transcription	Fetal Heart	heart
9	chr2:113267400-113290000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:113268000-113286400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:113270600-113298800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:113271000-113286200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:113271400-113281400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:113271600-113281600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:113272000-113280400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:113272600-113287400	Weak transcription	Fetal Kidney	kidney
17	chr2:113272800-113280600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:113273000-113280400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:113273200-113278800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:113273200-113279000	Weak transcription	Hela-S3	cervix
21	chr2:113273200-113281400	Strong transcription	Fetal Stomach	stomach
22	chr2:113273400-113279000	Weak transcription	Fetal Intestine Large	intestine
23	chr2:113273400-113281600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:113274200-113281000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:113274200-113281200	Strong transcription	Primary T cells from cord blood	blood
26	chr2:113274200-113281200	Strong transcription	Left Ventricle	heart
27	chr2:113275400-113281200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:113275600-113281400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:113275600-113281400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:113275600-113281400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:113276000-113280200	Strong transcription	HUVEC	blood vessel
32	chr2:113276000-113280400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:113276000-113281000	Strong transcription	Adipose Nuclei	Adipose
34	chr2:113276200-113281200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:113276200-113281400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:113276200-113281400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:113276200-113281400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:113276200-113281400	Strong transcription	Dnd41	blood
39	chr2:113276400-113280000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr2:113276400-113281400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:113276400-113281400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:113276400-113281400	Strong transcription	Fetal Thymus	thymus
43	chr2:113276400-113281400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr2:113276400-113281600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:113276400-113281600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:113276400-113281600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:113276600-113281000	Strong transcription	Brain Hippocampus Middle	brain
48	chr2:113276600-113281400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:113276600-113281400	Strong transcription	Fetal Brain Female	brain
50	chr2:113276600-113281400	Strong transcription	HepG2	liver

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