Variant report

Variant	rs2228220
Chromosome Location	chr6:12123249-12123250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:12123163-12123434	K562	blood:	n/a	n/a
2	POLR2A	chr6:12122946-12123424	K562	blood:	n/a	n/a
3	POLR2A	chr6:12123103-12123575	GM12892	blood:	n/a	n/a
4	POLR2A	chr6:12120206-12127200	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:12120255..12124315-chr6:12124957..12127895,3	MCF-7	breast:
2	chr6:12122965..12125225-chr6:12131203..12132962,2	MCF-7	breast:
3	chr6:12121354..12124160-chr6:12124387..12127590,3	K562	blood:
4	chr6:12122296..12124264-chr6:12129794..12132335,2	K562	blood:
5	chr6:12110770..12113463-chr6:12121895..12124964,3	K562	blood:

No data

Variant related genes	Relation type
HIVEP1	TF binding region
ENSG00000095951	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1126472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734271	0.86[JPT][hapmap]
rs3777754	0.86[JPT][hapmap]
rs3777758	0.86[JPT][hapmap]
rs3777762	0.86[JPT][hapmap]
rs3777769	0.86[JPT][hapmap]
rs3777770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822926	0.86[JPT][hapmap]
rs4407714	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72826090	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751398	0.86[JPT][hapmap]
rs9357278	0.91[YRI][hapmap]
rs9380831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394541	0.86[JPT][hapmap]
rs9394551	0.82[EUR][1000 genomes];0.96[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	nsv870443	chr6:12096356-12125998	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12091000-12130600	Weak transcription	Psoas Muscle	Psoas
2	chr6:12107400-12124800	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:12116000-12128000	Weak transcription	Fetal Heart	heart
4	chr6:12117200-12136800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:12118400-12138400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:12118800-12131400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:12119200-12125000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:12119400-12126000	Strong transcription	Fetal Muscle Leg	muscle
9	chr6:12119400-12126200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:12119400-12129800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:12119600-12126800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:12119800-12138800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:12120000-12128800	Strong transcription	Liver	Liver
14	chr6:12120200-12123400	Strong transcription	NH-A	brain
15	chr6:12120200-12123600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:12120200-12123600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:12120200-12123800	Strong transcription	Primary T cells from cord blood	blood
18	chr6:12120200-12124800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:12120200-12124800	Strong transcription	Fetal Thymus	thymus
20	chr6:12120200-12124800	Strong transcription	Thymus	Thymus
21	chr6:12120200-12125000	Strong transcription	Fetal Intestine Large	intestine
22	chr6:12120200-12125200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr6:12120200-12126000	Strong transcription	Left Ventricle	heart
24	chr6:12120200-12126000	Strong transcription	HUVEC	blood vessel
25	chr6:12120200-12129000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:12120400-12123400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr6:12120400-12123600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:12120400-12124000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:12120400-12124200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:12120400-12124600	Strong transcription	HSMMtube	muscle
31	chr6:12120400-12125000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:12120400-12125000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:12120400-12125000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:12120400-12125000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:12120400-12125200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:12120400-12125200	Strong transcription	NHEK	skin
37	chr6:12120400-12125400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:12120400-12126000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:12120400-12126000	Strong transcription	HepG2	liver
40	chr6:12120400-12126200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr6:12120400-12126600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:12120400-12128200	Strong transcription	HSMM	muscle
43	chr6:12120400-12129000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:12120600-12124200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:12120600-12124400	Strong transcription	Brain Germinal Matrix	brain
46	chr6:12120600-12124400	Strong transcription	Fetal Brain Female	brain
47	chr6:12120600-12124800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr6:12121400-12123600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr6:12121400-12128000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr6:12121400-12128000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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