Variant report

Variant	rs17262764
Chromosome Location	chr4:106629009-106629010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:106628951-106630488	NB4	blood:	n/a	n/a
2	MXI1	chr4:106628998-106630475	GM12878	blood:	n/a	n/a
3	JUN	chr4:106628881-106630697	K562	blood:	n/a	n/a
4	ARID3A	chr4:106628952-106629378	HepG2	liver:	n/a	n/a
5	IRF1	chr4:106628986-106629241	K562	blood:	n/a	n/a
6	SREBP1	chr4:106628160-106630350	GM12878	blood:	n/a	n/a
7	MAX	chr4:106628916-106630623	K562	blood:	n/a	n/a
8	POLR2A	chr4:106628643-106630648	HepG2	liver:	n/a	n/a
9	MAX	chr4:106628974-106630154	NB4	blood:	n/a	n/a
10	MAX	chr4:106628902-106630416	HepG2	liver:	n/a	n/a
11	BHLHE40	chr4:106628688-106630088	K562	blood:	n/a	n/a
12	POLR2A	chr4:106628823-106630756	K562	blood:	n/a	n/a
13	MYC	chr4:106628969-106630574	K562	blood:	n/a	n/a
14	MYC	chr4:106628960-106630149	MCF10A-Er-Src	breast:	n/a	n/a
15	MXI1	chr4:106628559-106631071	SK-N-SH	brain:	n/a	n/a
16	REST	chr4:106628973-106630806	H1-neurons	neurons:	n/a	n/a
17	ZNF143	chr4:106628916-106629080	GM12878	blood:	n/a	n/a
18	PML	chr4:106628996-106630344	GM12878	blood:	n/a	n/a
19	BHLHE40	chr4:106628947-106630474	HepG2	liver:	n/a	n/a
20	RFX5	chr4:106628987-106632419	SK-N-SH	brain:	n/a	chr4:106629352-106629361 chr4:106630732-106630749 chr4:106631958-106631972 chr4:106631963-106631971 chr4:106631960-106631969 chr4:106631957-106631972
21	POLR2A	chr4:106628754-106631181	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr4:106628913-106630493	K562	blood:	n/a	n/a
23	POLR2A	chr4:106628615-106630777	GM12891	blood:	n/a	n/a
24	BHLHE40	chr4:106628707-106630130	GM12878	blood:	n/a	n/a
25	ESRRA	chr4:106628723-106630637	GM12878	blood:	n/a	chr4:106630529-106630547

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106600442..106602529-chr4:106626797..106629772,2	K562	blood:
2	chr4:106628392..106631014-chr4:106816298..106818181,3	MCF-7	breast:
3	chr4:106628549..106631300-chr4:106636039..106639035,3	MCF-7	breast:
4	chr4:106393199..106396342-chr4:106628328..106631625,4	K562	blood:
5	chr4:106619847..106624541-chr4:106627186..106631133,7	MCF-7	breast:
6	chr4:106393678..106396634-chr4:106628055..106631625,3	K562	blood:
7	chr4:106616699..106623307-chr4:106623731..106631342,11	K562	blood:
8	chr4:106628554..106633489-chr4:106634205..106639726,8	K562	blood:

No data

Variant related genes	Relation type
GSTCD	TF binding region
ENSG00000138777	Chromatin interaction
ENSG00000138785	Chromatin interaction
ENSG00000248778	Chromatin interaction
ENSG00000138780	Chromatin interaction
ENSG00000168743	Chromatin interaction
ENSG00000236699	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10025790	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs10516523	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722731	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11933386	0.80[EUR][1000 genomes]
rs11933466	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap]
rs11934139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11941690	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12639750	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1294667	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1294669	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1294670	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1294673	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13120110	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13138544	0.85[CHD][hapmap]
rs13147012	0.85[ASN][1000 genomes]
rs13148869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17036098	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2044536	0.82[CEU][hapmap];0.95[CHD][hapmap]
rs2080789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2544395	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2544398	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.80[EUR][1000 genomes]
rs2544404	0.80[EUR][1000 genomes]
rs2544405	0.80[EUR][1000 genomes]
rs2544406	0.82[CHB][hapmap]
rs2544408	0.82[CHB][hapmap]
rs2544409	0.82[CHB][hapmap]
rs2544412	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2544413	1.00[CEU][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2544425	0.82[CHB][hapmap]
rs2553432	0.80[EUR][1000 genomes]
rs2553436	0.80[EUR][1000 genomes]
rs2553441	0.80[EUR][1000 genomes]
rs2553445	0.82[AFR][1000 genomes]
rs2553449	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2553453	0.82[CHB][hapmap]
rs2553458	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2553462	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2553468	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28628106	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3756260	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533218	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6820200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680134	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7684442	0.89[AMR][1000 genomes]
rs7684839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7685231	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];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	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106602200-106629200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:106602600-106629200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:106604400-106629200	Weak transcription	Esophagus	oesophagus
4	chr4:106604400-106629200	Weak transcription	Gastric	stomach
5	chr4:106627800-106630800	Active TSS	GM12878-XiMat	blood
6	chr4:106628000-106629800	Active TSS	Right Atrium	heart
7	chr4:106628200-106629400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:106628400-106629200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:106628400-106629200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:106628400-106629200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:106628400-106629200	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr4:106628400-106629200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr4:106628400-106629200	Flanking Active TSS	Dnd41	blood
14	chr4:106628400-106629200	Flanking Active TSS	HUVEC	blood vessel
15	chr4:106628400-106629200	Flanking Active TSS	NHEK	skin
16	chr4:106628400-106629400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr4:106628400-106629600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:106628400-106631000	Active TSS	Psoas Muscle	Psoas
19	chr4:106628600-106629200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:106628600-106629200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:106628600-106629200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr4:106628600-106629200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:106628600-106629200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr4:106628600-106629200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr4:106628600-106629200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr4:106628600-106629200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr4:106628600-106629200	Flanking Active TSS	Liver	Liver
28	chr4:106628600-106629200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr4:106628600-106629200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr4:106628600-106629200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr4:106628600-106629200	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr4:106628600-106629200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr4:106628600-106629200	Enhancers	Small Intestine	intestine
34	chr4:106628600-106629200	Flanking Active TSS	NH-A	brain
35	chr4:106628600-106629200	Flanking Active TSS	NHDF-Ad	bronchial
36	chr4:106628600-106629200	Flanking Active TSS	Osteobl	bone
37	chr4:106628600-106629400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr4:106628600-106629400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr4:106628600-106629400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr4:106628600-106629400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr4:106628600-106629600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr4:106628600-106629600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:106628600-106629600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr4:106628600-106630400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr4:106628600-106630400	Active TSS	Stomach Smooth Muscle	stomach
46	chr4:106628600-106630800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr4:106628600-106630800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:106628600-106630800	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr4:106628600-106630800	Active TSS	Aorta	Aorta
50	chr4:106628600-106630800	Active TSS	Ovary	ovary

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