Variant report

Variant	rs3735642
Chromosome Location	chr7:127224286-127224287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127224228-127224426	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr7:127223511-127226381	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127203098..127205037-chr7:127222496..127224357,2	MCF-7	breast:
2	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:
3	chr7:127210811..127213532-chr7:127222493..127224995,2	K562	blood:
4	chr7:127193697..127196034-chr7:127222065..127224629,3	K562	blood:
5	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
6	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:

No data

Variant related genes	Relation type
ARF5	TF binding region
ENSG00000240790	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000004059	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1090682	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1090683	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12536382	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs2073561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582717	0.81[CEU][hapmap]
rs327510	0.95[CEU][hapmap];0.85[GIH][hapmap];0.83[EUR][1000 genomes]
rs327511	0.83[EUR][1000 genomes]
rs327512	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs327516	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs327521	0.82[EUR][1000 genomes]
rs3735644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757793	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55791028	0.84[ASN][1000 genomes]
rs594141	0.87[EUR][1000 genomes]
rs62481355	0.84[ASN][1000 genomes]
rs67719649	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs698406	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs712697	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs712698	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs712699	0.84[EUR][1000 genomes]
rs712700	1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs712701	1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs712703	1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs712704	1.00[CEU][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72607743	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806175	0.81[CEU][hapmap]
rs806192	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs806193	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs806195	0.85[EUR][1000 genomes]
rs806196	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs806214	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806215	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs806216	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806218	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806219	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs989099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs989100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127221800-127224400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
2	chr7:127223000-127224800	Enhancers	Small Intestine	intestine
3	chr7:127223200-127224400	Enhancers	Liver	Liver
4	chr7:127223200-127224400	Enhancers	Spleen	Spleen
5	chr7:127223400-127224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:127223400-127224400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:127223400-127224400	Enhancers	Left Ventricle	heart
8	chr7:127223400-127224800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:127223400-127224800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:127223400-127225200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:127223600-127224400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:127223600-127224400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr7:127223600-127224400	Genic enhancers	Primary B cells from peripheral blood	blood
14	chr7:127223600-127224400	Enhancers	Lung	lung
15	chr7:127223600-127224400	Transcr. at gene 5' and 3'	HSMM	muscle
16	chr7:127223600-127224600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr7:127223600-127224800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr7:127223600-127225000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:127223600-127225000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:127223600-127225000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:127223600-127225000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:127223600-127225000	Flanking Active TSS	NHEK	skin
23	chr7:127223600-127225000	Flanking Active TSS	NHLF	lung
24	chr7:127223600-127225200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr7:127223600-127225200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:127223600-127225200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:127223600-127225200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr7:127223600-127225200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:127223600-127225200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr7:127223600-127225200	Flanking Active TSS	HUVEC	blood vessel
31	chr7:127223800-127224400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:127223800-127224400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:127223800-127224400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:127223800-127224400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:127223800-127224400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:127223800-127224400	Genic enhancers	Fetal Intestine Small	intestine
37	chr7:127223800-127224400	Flanking Active TSS	A549	lung
38	chr7:127223800-127224400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
39	chr7:127223800-127224400	Transcr. at gene 5' and 3'	K562	blood
40	chr7:127223800-127224600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:127223800-127224600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:127223800-127224800	Flanking Active TSS	HepG2	liver
43	chr7:127223800-127224800	Flanking Active TSS	NHDF-Ad	bronchial
44	chr7:127223800-127225000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:127223800-127225000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:127223800-127225000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr7:127223800-127225000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:127223800-127225000	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr7:127223800-127225000	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr7:127223800-127225000	Flanking Active TSS	Psoas Muscle	Psoas

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