Variant report

Variant	rs7711530
Chromosome Location	chr5:61606610-61606611
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	CEBPD	chr5:61606239-61606770	K562	blood:	n/a	n/a
2	NR2F2	chr5:61606272-61606725	K562	blood:	n/a	n/a
3	MXI1	chr5:61606501-61606748	K562	blood:	n/a	n/a
4	TEAD4	chr5:61606169-61606790	K562	blood:	n/a	n/a
5	TBL1XR1	chr5:61606368-61606889	K562	blood:	n/a	n/a
6	TRIM28	chr5:61606286-61606779	K562	blood:	n/a	n/a
7	GATA2	chr5:61606232-61606652	K562	blood:	n/a	n/a
8	RCOR1	chr5:61606347-61606716	K562	blood:	n/a	n/a
9	WRNIP1	chr5:61606246-61606622	GM12878	blood:	n/a	n/a
10	CCNT2	chr5:61606227-61606721	K562	blood:	n/a	n/a
11	RCOR1	chr5:61606307-61606724	K562	blood:	n/a	n/a
12	PML	chr5:61606240-61606690	K562	blood:	n/a	n/a
13	STAT5A	chr5:61606254-61606750	K562	blood:	n/a	chr5:61606351-61606362 chr5:61606258-61606266
14	GATA1	chr5:61606217-61606914	K562	blood:	n/a	n/a
15	MXI1	chr5:61606467-61606776	GM12878	blood:	n/a	n/a
16	TEAD4	chr5:61606200-61606787	K562	blood:	n/a	n/a
17	UBTF	chr5:61606605-61606695	K562	blood:	n/a	n/a
18	EP300	chr5:61606401-61606668	K562	blood:	n/a	n/a
19	GATA1	chr5:61606207-61607239	PBDE	blood:	n/a	chr5:61607068-61607079
20	TBL1XR1	chr5:61606370-61606780	K562	blood:	n/a	n/a
21	ZMIZ1	chr5:61606370-61606720	K562	blood:	n/a	n/a
22	CUX1	chr5:61606347-61606992	K562	blood:	n/a	n/a
23	ARID3A	chr5:61606306-61606906	K562	blood:	n/a	chr5:61606316-61606332 chr5:61606317-61606333
24	POLR2A	chr5:61606220-61606706	K562	blood:	n/a	n/a
25	POLR2A	chr5:61606259-61606856	K562	blood:	n/a	n/a
26	MYC	chr5:61606412-61606662	K562	blood:	n/a	n/a
27	MYC	chr5:61606265-61606742	K562	blood:	n/a	n/a
28	GATA2	chr5:61606360-61606611	K562	blood:	n/a	n/a
29	CEBPD	chr5:61606200-61606837	K562	blood:	n/a	n/a
30	PML	chr5:61606304-61606769	K562	blood:	n/a	n/a
31	TAL1	chr5:61606321-61606734	K562	blood:	n/a	n/a
32	JUND	chr5:61606313-61606780	K562	blood:	n/a	chr5:61606617-61606626
33	EP300	chr5:61606320-61606849	K562	blood:	n/a	n/a
34	NR2F2	chr5:61606198-61606709	K562	blood:	n/a	n/a
35	ZNF384	chr5:61606353-61606817	K562	blood:	n/a	n/a
36	IRF1	chr5:61606290-61606981	K562	blood:	n/a	chr5:61606351-61606361 chr5:61606351-61606365 chr5:61606624-61606634 chr5:61606349-61606363 chr5:61606351-61606362 chr5:61606347-61606361

No.	Distal block	Cell Line	Cell type
1	chr5:61604944..61606842-chr5:61609048..61611891,3	MCF-7	breast:
2	chr5:61604639..61607587-chr5:61647579..61650088,2	MCF-7	breast:
3	chr5:61606018..61607564-chr5:61612889..61615038,2	MCF-7	breast:
4	chr5:61602098..61603608-chr5:61605633..61607272,2	MCF-7	breast:
5	chr5:61592874..61595599-chr5:61604099..61606788,3	K562	blood:

Variant related genes	Relation type
KIF2A	TF binding region
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11748930	0.87[CEU][hapmap]
rs12653369	0.83[CEU][hapmap]
rs12657535	0.83[CEU][hapmap]
rs12659777	0.87[CEU][hapmap]
rs152185	0.83[CEU][hapmap]
rs152189	0.87[CEU][hapmap]
rs153855	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs15807	0.87[CEU][hapmap]
rs168847	0.83[CEU][hapmap]
rs16890606	0.83[CEU][hapmap]
rs16890622	0.80[CEU][hapmap]
rs185048	0.83[CEU][hapmap]
rs247236	0.83[CEU][hapmap]
rs247256	0.83[CEU][hapmap]
rs247257	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs247260	0.82[EUR][1000 genomes]
rs26612	0.83[CEU][hapmap]
rs26633	0.83[CEU][hapmap]
rs35009	0.87[CEU][hapmap]
rs35015	0.83[CEU][hapmap]
rs35016	0.87[CEU][hapmap]
rs6871913	0.83[CEU][hapmap]
rs6882514	0.87[CEU][hapmap]
rs6886044	0.87[CEU][hapmap]
rs6894270	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61603200-61629200	Weak transcription	Lung	lung
2	chr5:61603200-61629200	Weak transcription	Spleen	Spleen
3	chr5:61603400-61606800	Weak transcription	Small Intestine	intestine
4	chr5:61603400-61607400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:61603400-61625200	Weak transcription	Stomach Mucosa	stomach
6	chr5:61603400-61658600	Weak transcription	Aorta	Aorta
7	chr5:61603600-61622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:61603600-61622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:61603600-61629200	Weak transcription	Psoas Muscle	Psoas
10	chr5:61603800-61607600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:61603800-61607800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:61603800-61609600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:61603800-61611200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:61603800-61611200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:61603800-61611200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:61603800-61629200	Weak transcription	Left Ventricle	heart
17	chr5:61604000-61606800	Weak transcription	Adipose Nuclei	Adipose
18	chr5:61604000-61607400	Weak transcription	Fetal Intestine Small	intestine
19	chr5:61604000-61607400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:61604000-61607800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:61604000-61607800	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:61604000-61608000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:61604000-61611000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:61604000-61617400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:61604000-61622200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:61604000-61622200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:61604000-61622200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:61604000-61629000	Weak transcription	Thymus	Thymus
29	chr5:61604200-61607000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:61604200-61609000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:61604200-61609000	Enhancers	Brain Anterior Caudate	brain
32	chr5:61604200-61609200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:61604200-61616800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:61604400-61607000	Weak transcription	HMEC	breast
35	chr5:61604400-61608200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:61604400-61608800	Enhancers	NHDF-Ad	bronchial
37	chr5:61604400-61616000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr5:61604400-61617400	Weak transcription	Fetal Stomach	stomach
39	chr5:61604400-61617400	Weak transcription	HUVEC	blood vessel
40	chr5:61604400-61617600	Weak transcription	Placenta	Placenta
41	chr5:61604400-61627000	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:61604400-61629200	Weak transcription	Esophagus	oesophagus
43	chr5:61604400-61629400	Weak transcription	Pancreas	Pancrea
44	chr5:61604400-61643800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:61604600-61607400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:61604600-61608200	Genic enhancers	K562	blood
47	chr5:61604600-61609000	Enhancers	Primary T cells from cord blood	blood
48	chr5:61604600-61610200	Weak transcription	Hela-S3	cervix
49	chr5:61604600-61612600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr5:61604600-61615400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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