Variant report

Variant	rs7578685
Chromosome Location	chr2:113279514-113279515
allele	A/C
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	MYC	chr2:113279436-113279611	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:113279268-113279674	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:113279191-113279600	K562	blood:	n/a	n/a
4	POLR2A	chr2:113279134-113279598	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113277911..113280966-chr2:113298764..113301565,3	MCF-7	breast:

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

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4849070	1.00[EUR][1000 genomes]
rs7506	1.00[EUR][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	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	chr2:113241600-113292400	Weak transcription	Small Intestine	intestine
3	chr2:113241800-113286000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:113241800-113286200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:113260800-113286200	Weak transcription	Fetal Brain Male	brain
6	chr2:113260800-113298800	Weak transcription	Fetal Heart	heart
7	chr2:113267400-113290000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:113268000-113286400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:113270600-113298800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:113271000-113286200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:113271400-113281400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:113271600-113281600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:113272000-113280400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:113272600-113287400	Weak transcription	Fetal Kidney	kidney
15	chr2:113272800-113280600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:113273000-113280400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:113273200-113281400	Strong transcription	Fetal Stomach	stomach
18	chr2:113273400-113281600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:113274200-113281000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:113274200-113281200	Strong transcription	Primary T cells from cord blood	blood
21	chr2:113274200-113281200	Strong transcription	Left Ventricle	heart
22	chr2:113275400-113281200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:113275600-113281400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:113275600-113281400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:113275600-113281400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:113276000-113280200	Strong transcription	HUVEC	blood vessel
27	chr2:113276000-113280400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:113276000-113281000	Strong transcription	Adipose Nuclei	Adipose
29	chr2:113276200-113281200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:113276200-113281400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:113276200-113281400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:113276200-113281400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr2:113276200-113281400	Strong transcription	Dnd41	blood
34	chr2:113276400-113280000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:113276400-113281400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:113276400-113281400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:113276400-113281400	Strong transcription	Fetal Thymus	thymus
38	chr2:113276400-113281400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr2:113276400-113281600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr2:113276400-113281600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:113276400-113281600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:113276600-113281000	Strong transcription	Brain Hippocampus Middle	brain
43	chr2:113276600-113281400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:113276600-113281400	Strong transcription	Fetal Brain Female	brain
45	chr2:113276600-113281400	Strong transcription	HepG2	liver
46	chr2:113276600-113281600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:113276800-113280200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:113276800-113280200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:113276800-113280200	Strong transcription	HSMMtube	muscle
50	chr2:113276800-113281200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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