Variant report

Variant	rs3750121
Chromosome Location	chr7:33148712-33148713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:33147764..33149683-chr7:33167457..33170052,3	MCF-7	breast:
2	chr7:32929842..32933813-chr7:33147048..33149516,4	K562	blood:
3	chr7:33100859..33104943-chr7:33146945..33149986,6	MCF-7	breast:
4	chr20:49347482..49349251-chr7:33147388..33148972,2	MCF-7	breast:
5	chr7:33101766..33103971-chr7:33147720..33150417,2	K562	blood:
6	chr19:47730376..47730970-chr7:33148568..33149081,2	Hela-S3	cervix:
7	chr7:32929813..32931362-chr7:33146969..33149896,3	K562	blood:
8	chr7:32930971..32934181-chr7:33147634..33150487,3	MCF-7	breast:
9	chr7:33120839..33123579-chr7:33147074..33148845,2	MCF-7	breast:
10	chr7:33147545..33149151-chr7:33167596..33169294,2	K562	blood:
11	chr7:33101689..33103789-chr7:33147448..33149100,2	MCF-7	breast:
12	chr7:32995811..32998630-chr7:33147873..33150650,5	MCF-7	breast:
13	chr7:32996816..32997512-chr7:33148545..33149076,2	Hela-S3	cervix:
14	chr7:33148601..33150604-chr7:33153806..33156546,2	K562	blood:
15	chr7:33148471..33149111-chr8:37962511..37963365,2	HCT-116	colon:
16	chr7:33101592..33103439-chr7:33148174..33150339,2	K562	blood:
17	chr7:32981289..32983857-chr7:33147743..33149971,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122643	Chromatin interaction
ENSG00000205763	Chromatin interaction
ENSG00000122507	Chromatin interaction
ENSG00000170852	Chromatin interaction
ENSG00000228015	Chromatin interaction
ENSG00000129691	Chromatin interaction
ENSG00000122642	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000252706	Chromatin interaction
ENSG00000105327	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10245553	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10281469	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11760414	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11763923	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11766395	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11771864	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11773214	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11981778	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12667849	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12672159	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17393789	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17393824	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17472290	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17472556	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2021562	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2021883	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2022231	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2392220	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28465403	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28633587	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28654432	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2893463	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3847009	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4083280	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4720102	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55862266	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56176900	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66617822	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66962586	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs68111021	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6947994	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6948361	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6963955	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6964595	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6976971	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6980186	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73093561	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7783079	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7800322	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv508450	chr7:33123335-33184848	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1033502	chr7:33124005-33185470	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1025361	chr7:33125663-33185470	Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv869720	chr7:33127192-33193580	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1026615	chr7:33128234-33185470	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1020741	chr7:33130675-33185470	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1027807	chr7:33130675-33190591	Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2761318	chr7:33130687-33185482	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv464422	chr7:33131729-33187279	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv606606	chr7:33131729-33187279	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv606607	chr7:33131729-33192502	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv464423	chr7:33131729-33192800	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv606608	chr7:33131729-33192800	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv520406	chr7:33131729-33192837	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv606609	chr7:33131729-33196354	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1030007	chr7:33132814-33185470	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1028637	chr7:33133742-33185470	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr7:33147000-33148800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr7:33147200-33149800	Active TSS	Ovary	ovary
3	chr7:33147200-33149800	Active TSS	Right Atrium	heart
4	chr7:33147400-33149600	Active TSS	Right Ventricle	heart
5	chr7:33147400-33149800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:33147800-33148800	Active TSS	Brain Germinal Matrix	brain
7	chr7:33147800-33149600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:33147800-33149600	Active TSS	Aorta	Aorta
9	chr7:33147800-33149600	Active TSS	Left Ventricle	heart
10	chr7:33147800-33149600	Active TSS	Psoas Muscle	Psoas
11	chr7:33147800-33149600	Active TSS	A549	lung
12	chr7:33147800-33149800	Active TSS	Colonic Mucosa	Colon
13	chr7:33147800-33150000	Active TSS	NHLF	lung
14	chr7:33147800-33150200	Active TSS	NHDF-Ad	bronchial
15	chr7:33148000-33148800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:33148000-33149400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:33148000-33149400	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr7:33148000-33149400	Active TSS	GM12878-XiMat	blood
19	chr7:33148000-33149600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr7:33148000-33149600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr7:33148000-33149600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:33148000-33149600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:33148000-33149600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:33148000-33149600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:33148000-33149600	Active TSS	HSMM	muscle
26	chr7:33148000-33149800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:33148000-33149800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:33148000-33149800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:33148000-33149800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:33148000-33149800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:33148000-33149800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:33148000-33149800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:33148000-33150000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:33148000-33150200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:33148200-33148800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:33148200-33149000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:33148200-33149200	Active TSS	Dnd41	blood
38	chr7:33148200-33149400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:33148200-33149400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:33148200-33149400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:33148200-33149400	Active TSS	Muscle Satellite Cultured Cells	--
42	chr7:33148200-33149400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr7:33148200-33149400	Active TSS	Fetal Intestine Large	intestine
44	chr7:33148200-33149400	Active TSS	Fetal Stomach	stomach
45	chr7:33148200-33149400	Active TSS	Gastric	stomach
46	chr7:33148200-33149400	Active TSS	Lung	lung
47	chr7:33148200-33149400	Active TSS	Small Intestine	intestine
48	chr7:33148200-33149400	Active TSS	Hela-S3	cervix
49	chr7:33148200-33149600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr7:33148200-33149600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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