Variant report

Variant	rs2270414
Chromosome Location	chr2:37375932-37375933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:37375501-37376016	MCF-7	breast:	n/a	n/a
2	CEBPB	chr2:37375357-37376054	MCF-7	breast:	n/a	n/a
3	HDAC2	chr2:37375474-37375967	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr2:37375320-37376068	MCF-7	breast:	n/a	n/a
5	ZNF217	chr2:37375556-37375998	MCF-7	breast:	n/a	n/a
6	NR2F2	chr2:37375475-37375949	MCF-7	breast:	n/a	n/a
7	EP300	chr2:37375504-37375957	T-47D	breast:	n/a	n/a
8	GATA3	chr2:37375282-37376048	MCF-7	breast:	n/a	n/a
9	GATA3	chr2:37375367-37376000	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37375493..37378915-chr2:37383921..37387868,3	K562	blood:
2	chr2:37373517..37380041-chr2:37380520..37385811,10	MCF-7	breast:
3	chr2:37375443..37378209-chr2:37422439..37424991,2	MCF-7	breast:
4	chr2:37374955..37377720-chr2:37382756..37385654,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007390.5.1-4	chr2:37375673-37376447	NONHSAT070097

No data

Variant related genes	Relation type
EIF2AK2	TF binding region
ENSG00000055332	Chromatin interaction
ENSG00000218739	Chromatin interaction
ENSG00000138068	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10187017	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10201149	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11894414	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11894449	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11899117	0.86[ASN][1000 genomes]
rs11904602	0.86[ASN][1000 genomes]
rs12475964	0.83[ASN][1000 genomes]
rs12619587	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12620426	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12712526	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12992610	0.81[ASN][1000 genomes]
rs12992818	0.81[ASN][1000 genomes]
rs12994023	0.83[ASN][1000 genomes]
rs12994644	0.95[ASN][1000 genomes]
rs13008236	0.83[ASN][1000 genomes]
rs13008681	0.88[ASN][1000 genomes]
rs13020602	0.95[ASN][1000 genomes]
rs13026696	0.95[ASN][1000 genomes]
rs13027513	0.95[ASN][1000 genomes]
rs2014498	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2254958	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3856500	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs3936292	0.83[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4670662	0.94[ASN][1000 genomes]
rs4670663	0.95[ASN][1000 genomes]
rs4670664	0.93[ASN][1000 genomes]
rs4670665	0.95[ASN][1000 genomes]
rs4670666	0.82[ASN][1000 genomes]
rs72790618	0.82[ASN][1000 genomes]
rs7340267	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7575957	0.94[ASN][1000 genomes]
rs7580127	0.95[ASN][1000 genomes]
rs7580323	0.95[ASN][1000 genomes]
rs7580428	0.90[ASN][1000 genomes]
rs759667	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7606786	0.91[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37319200-37377200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:37333200-37379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:37336400-37383200	Weak transcription	Psoas Muscle	Psoas
5	chr2:37339800-37376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:37342400-37376400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:37342400-37376400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:37342400-37376600	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:37346400-37376200	Strong transcription	Fetal Intestine Large	intestine
10	chr2:37347600-37376400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:37347800-37376400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:37347800-37376400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:37348400-37376000	Strong transcription	Adipose Nuclei	Adipose
14	chr2:37348400-37377000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:37348600-37376200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:37348600-37376600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:37348600-37377200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:37348600-37377400	Strong transcription	Dnd41	blood
19	chr2:37348800-37376200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr2:37348800-37376400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr2:37348800-37376600	Strong transcription	Fetal Thymus	thymus
22	chr2:37348800-37376800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:37349000-37376200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:37349000-37376200	Strong transcription	Fetal Brain Female	brain
25	chr2:37351800-37376000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:37353000-37377200	Strong transcription	Fetal Muscle Leg	muscle
27	chr2:37355000-37383200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:37355200-37376000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:37355200-37376800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:37356800-37377000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:37357400-37376200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:37358200-37376600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:37359000-37376200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:37360000-37376200	Strong transcription	HepG2	liver
35	chr2:37361800-37383200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:37362200-37376800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:37362800-37378400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:37363600-37376200	Weak transcription	Pancreas	Pancrea
39	chr2:37363600-37382600	Weak transcription	Esophagus	oesophagus
40	chr2:37365800-37383600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:37367600-37376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:37368400-37376400	Strong transcription	Fetal Stomach	stomach
43	chr2:37369800-37376400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:37370200-37377200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:37370400-37376000	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr2:37370400-37377200	Strong transcription	Osteobl	bone
47	chr2:37370600-37376200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:37370800-37376000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:37370800-37376000	Strong transcription	Brain Substantia Nigra	brain
50	chr2:37370800-37376400	Strong transcription	Primary hematopoietic stem cells	blood

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