Variant report

Variant	rs13418207
Chromosome Location	chr2:85836891-85836892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:85835973-85837013	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85786409..85789816-chr2:85832001..85837582,5	MCF-7	breast:
2	chr2:85580926..85583118-chr2:85836268..85838662,2	K562	blood:
3	chr2:85764346..85769986-chr2:85836202..85840842,10	MCF-7	breast:
4	chr2:85553529..85555349-chr2:85834685..85837208,2	K562	blood:
5	chr2:85785973..85791563-chr2:85836230..85840689,7	MCF-7	breast:

No data

Variant related genes	Relation type
USP39	TF binding region
ENSG00000042445	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000115459	Chromatin interaction
ENSG00000152291	Chromatin interaction
ENSG00000115486	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10182351	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10190428	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10191726	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10302	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1124836	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13383605	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs14242	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1562322	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1992151	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2118176	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2232745	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2232747	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2232750	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2304564	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3198089	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3755009	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3755010	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3755011	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821020	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3827550	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6643	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6743051	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85830800-85838200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:85830800-85838200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:85830800-85838600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:85832000-85837200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:85832000-85837600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:85832400-85837600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:85832600-85837000	Enhancers	Psoas Muscle	Psoas
8	chr2:85832800-85837200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:85832800-85837400	Strong transcription	Primary T cells from cord blood	blood
10	chr2:85832800-85837400	Strong transcription	Fetal Thymus	thymus
11	chr2:85832800-85837600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:85833000-85837400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:85833000-85837800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:85833000-85838200	Weak transcription	HMEC	breast
15	chr2:85833200-85837000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:85833200-85837000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:85833200-85837000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr2:85833200-85837000	Strong transcription	Thymus	Thymus
19	chr2:85833200-85837200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:85833200-85837800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:85833400-85837400	Strong transcription	Fetal Intestine Small	intestine
22	chr2:85833400-85837400	Strong transcription	Dnd41	blood
23	chr2:85833400-85837800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:85833600-85837200	Weak transcription	Stomach Mucosa	stomach
25	chr2:85833600-85837400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:85833600-85837400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:85833800-85837200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:85833800-85837200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:85833800-85837600	Strong transcription	Fetal Stomach	stomach
30	chr2:85834000-85837400	Weak transcription	Fetal Brain Male	brain
31	chr2:85834000-85838000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:85834200-85837000	Strong transcription	Brain Hippocampus Middle	brain
33	chr2:85834200-85837200	Strong transcription	Fetal Intestine Large	intestine
34	chr2:85834200-85837400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:85834400-85837400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr2:85834400-85837800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:85834600-85837800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:85834600-85838000	Genic enhancers	Placenta	Placenta
39	chr2:85834800-85837200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:85834800-85837400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:85834800-85837400	Strong transcription	Osteobl	bone
42	chr2:85835000-85837200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:85835000-85837400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:85835000-85837600	Strong transcription	K562	blood
45	chr2:85835200-85837000	Strong transcription	Aorta	Aorta
46	chr2:85835200-85837400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:85835200-85837600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:85835200-85837600	Genic enhancers	Left Ventricle	heart
49	chr2:85835400-85837400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:85835400-85837400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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