Variant report

Variant	rs7697770
Chromosome Location	chr4:187652508-187652509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187652128..187654537-chr4:187654823..187656879,2	MCF-7	breast:
2	chr4:187651874..187654017-chr4:187676972..187679507,2	K562	blood:
3	chr4:187651958..187654545-chr4:187671276..187673599,3	K562	blood:
4	chr4:187651958..187653758-chr4:187671404..187673599,2	K562	blood:
5	chr4:187639395..187641125-chr4:187652205..187654706,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11943296	1.00[AMR][1000 genomes]
rs1567872	1.00[AMR][1000 genomes]
rs2060140	1.00[AMR][1000 genomes]
rs322413	1.00[AMR][1000 genomes]
rs322414	1.00[AMR][1000 genomes]
rs323419	1.00[AMR][1000 genomes]
rs325030	1.00[AMR][1000 genomes]
rs34020342	1.00[AMR][1000 genomes]
rs366525	1.00[AMR][1000 genomes]
rs378639	1.00[AMR][1000 genomes]
rs403263	1.00[AMR][1000 genomes]
rs411852	1.00[AMR][1000 genomes]
rs412064	1.00[AMR][1000 genomes]
rs56099296	1.00[AMR][1000 genomes]
rs59816439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733571	1.00[AMR][1000 genomes]
rs6553023	1.00[AMR][1000 genomes]
rs6830315	1.00[AMR][1000 genomes]
rs73015674	1.00[AMR][1000 genomes]
rs73017537	1.00[AMR][1000 genomes]
rs73876306	1.00[AMR][1000 genomes]
rs73876308	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73876312	1.00[AMR][1000 genomes]
rs73876313	1.00[AMR][1000 genomes]
rs73876314	1.00[AMR][1000 genomes]
rs73876315	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv822892	chr4:187640281-187653074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv822893	chr4:187642198-187652700	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187649000-187654800	Weak transcription	Aorta	Aorta
2	chr4:187650400-187655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:187650400-187657000	Weak transcription	HSMM	muscle
4	chr4:187650400-187660800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:187650600-187652800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:187650600-187657000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:187650600-187657000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:187650600-187660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:187650600-187661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:187651000-187654800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:187651200-187656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:187651400-187655000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:187652000-187652600	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:187652200-187652800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:187652200-187653200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:187652200-187654800	Weak transcription	A549	lung
17	chr4:187652200-187656800	Weak transcription	Stomach Mucosa	stomach
18	chr4:187652400-187652600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:187652400-187652800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:187652400-187654800	Weak transcription	HepG2	liver
21	chr4:187652400-187655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:187652400-187655000	Weak transcription	HMEC	breast
23	chr4:187652400-187655800	Weak transcription	NHEK	skin
24	chr4:187652400-187657000	Weak transcription	Fetal Intestine Small	intestine
25	chr4:187652400-187657200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:187652400-187660400	Weak transcription	Fetal Intestine Large	intestine

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