Variant report

Variant	rs61733571
Chromosome Location	chr4:187628947-187628948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187619873..187621530-chr4:187627927..187629448,2	K562	blood:
2	chr4:187628920..187631619-chr4:187637176..187639413,2	K562	blood:
3	chr4:187627017..187629232-chr4:187633048..187634644,2	MCF-7	breast:
4	chr4:187625004..187626808-chr4:187627484..187629587,2	MCF-7	breast:

Extended variants
information (count: 35 )
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]
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	1.00[AMR][1000 genomes]
rs6553023	1.00[AMR][1000 genomes]
rs6830315	1.00[AMR][1000 genomes]
rs6851709	0.84[AFR][1000 genomes]
rs73015674	1.00[AMR][1000 genomes]
rs73017537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73876306	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73876308	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]
rs7697770	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187608000-187632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:187614800-187629400	Weak transcription	Esophagus	oesophagus
3	chr4:187622600-187634200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:187622800-187630400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:187623200-187631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:187623200-187632000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:187623400-187630000	Weak transcription	Right Atrium	heart
8	chr4:187623400-187630200	Weak transcription	Placenta	Placenta
9	chr4:187623400-187632800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:187623600-187630200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:187623800-187629200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:187623800-187630000	Weak transcription	Right Ventricle	heart
13	chr4:187623800-187631600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:187624000-187632000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:187624400-187630200	Weak transcription	Brain Angular Gyrus	brain
16	chr4:187624400-187631000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:187624600-187629000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:187624800-187633800	Weak transcription	Brain Substantia Nigra	brain
19	chr4:187625000-187631800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:187625400-187631000	Strong transcription	HMEC	breast
21	chr4:187625800-187630800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:187625800-187631000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:187626200-187630000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr4:187626200-187630000	Strong transcription	Fetal Intestine Small	intestine
25	chr4:187626200-187630200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:187626200-187631000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:187626200-187631000	Strong transcription	Fetal Intestine Large	intestine
28	chr4:187626200-187631000	Strong transcription	NH-A	brain
29	chr4:187626400-187630800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:187626400-187631000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:187626400-187631000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:187626400-187631000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:187626400-187631000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:187626400-187631200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:187626400-187631200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:187626400-187643600	Weak transcription	Stomach Mucosa	stomach
37	chr4:187626600-187629400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:187626600-187630400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:187626600-187630600	Strong transcription	Fetal Lung	lung
40	chr4:187626600-187630600	Strong transcription	Fetal Stomach	stomach
41	chr4:187626600-187630800	Strong transcription	HSMMtube	muscle
42	chr4:187626600-187631000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:187626600-187631000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr4:187626600-187631000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:187626600-187631000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:187626600-187631000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr4:187626600-187631000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:187626600-187631000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr4:187626600-187631000	Strong transcription	NHDF-Ad	bronchial
50	chr4:187626600-187631000	Strong transcription	NHLF	lung

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