Variant report

Variant	rs2228211
Chromosome Location	chr6:12122773-12122774
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	chr6:12122485-12122954	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:12121380-12123213	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:12121895-12123049	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:12120206-12127200	K562	blood:	n/a	n/a
5	POLR2A	chr6:12122594-12122790	GM12878	blood:	n/a	n/a

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

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10947756	0.81[GIH][hapmap]
rs12662314	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12663812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12664849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16872348	0.91[ASN][1000 genomes]
rs2157492	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2157494	0.81[MEX][hapmap]
rs2327512	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28769650	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777756	0.96[ASN][1000 genomes]
rs3777757	0.97[ASN][1000 genomes]
rs3777764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777767	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777777	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3800499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4317394	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4443504	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4484521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55637995	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6910367	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6917623	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6931770	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72828103	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72828104	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72828110	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7449638	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7741589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7747677	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs9380769	1.00[CEU][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	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:123 , 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	chr6:12119200-12123000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr6:12119200-12125000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:12119400-12126000	Strong transcription	Fetal Muscle Leg	muscle
10	chr6:12119400-12126200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:12119400-12129800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:12119600-12122800	Weak transcription	Stomach Mucosa	stomach
13	chr6:12119600-12126800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:12119800-12122800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:12119800-12138800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:12120000-12128800	Strong transcription	Liver	Liver
17	chr6:12120200-12122800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:12120200-12122800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:12120200-12122800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr6:12120200-12122800	Strong transcription	Right Ventricle	heart
21	chr6:12120200-12122800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:12120200-12122800	ZNF genes & repeats	K562	blood
23	chr6:12120200-12123400	Strong transcription	NH-A	brain
24	chr6:12120200-12123600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:12120200-12123600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:12120200-12123800	Strong transcription	Primary T cells from cord blood	blood
27	chr6:12120200-12124800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:12120200-12124800	Strong transcription	Fetal Thymus	thymus
29	chr6:12120200-12124800	Strong transcription	Thymus	Thymus
30	chr6:12120200-12125000	Strong transcription	Fetal Intestine Large	intestine
31	chr6:12120200-12125200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr6:12120200-12126000	Strong transcription	Left Ventricle	heart
33	chr6:12120200-12126000	Strong transcription	HUVEC	blood vessel
34	chr6:12120200-12129000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:12120400-12122800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:12120400-12122800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:12120400-12122800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:12120400-12122800	Strong transcription	Fetal Kidney	kidney
39	chr6:12120400-12122800	Strong transcription	Gastric	stomach
40	chr6:12120400-12122800	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:12120400-12122800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:12120400-12123000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr6:12120400-12123400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr6:12120400-12123600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:12120400-12124000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:12120400-12124200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:12120400-12124600	Strong transcription	HSMMtube	muscle
48	chr6:12120400-12125000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:12120400-12125000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:12120400-12125000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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