Variant report

Variant	rs73873696
Chromosome Location	chr4:187614019-187614020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187613163..187617339-chr4:187617909..187621339,4	K562	blood:
2	chr4:187607227..187608946-chr4:187613643..187615297,2	MCF-7	breast:
3	chr4:187611565..187614162-chr4:187644181..187645742,2	K562	blood:

Variant related genes	Relation type
ENSG00000083857	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2015953	1.00[EUR][1000 genomes]
rs55663302	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56309540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57875275	1.00[EUR][1000 genomes]
rs59997667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60068261	1.00[EUR][1000 genomes]
rs60796512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73873675	1.00[AMR][1000 genomes]
rs73873681	1.00[EUR][1000 genomes]
rs73873697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73873698	1.00[EUR][1000 genomes]
rs73873699	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73873700	1.00[EUR][1000 genomes]
rs73873701	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv881509	chr4:187574398-187614434	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3498359	chr4:187613358-187615956	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187583000-187614400	Weak transcription	Colonic Mucosa	Colon
2	chr4:187591200-187614400	Weak transcription	Ovary	ovary
3	chr4:187598200-187614400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:187600200-187617000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:187604600-187618000	Weak transcription	Fetal Stomach	stomach
6	chr4:187604600-187626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:187605800-187614400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:187606400-187614400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:187606400-187614400	Weak transcription	Brain Anterior Caudate	brain
10	chr4:187607000-187614400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:187607000-187614400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:187607400-187614200	Weak transcription	Hela-S3	cervix
13	chr4:187607400-187618200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:187608000-187614400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:187608000-187619400	Weak transcription	Small Intestine	intestine
16	chr4:187608000-187632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:187608200-187622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:187608400-187614400	Weak transcription	HSMMtube	muscle
19	chr4:187608600-187614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:187609200-187614600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:187609800-187614400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:187609800-187614400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:187609800-187614400	Weak transcription	Aorta	Aorta
24	chr4:187609800-187614400	Weak transcription	Lung	lung
25	chr4:187609800-187614400	Weak transcription	Right Atrium	heart
26	chr4:187610000-187614400	Weak transcription	Gastric	stomach
27	chr4:187610200-187621200	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:187610800-187615000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:187610800-187620600	Weak transcription	Fetal Kidney	kidney
30	chr4:187611000-187614400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:187611000-187614400	Weak transcription	Esophagus	oesophagus
32	chr4:187611000-187614400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:187611000-187614400	Weak transcription	NH-A	brain
34	chr4:187611000-187614400	Weak transcription	NHDF-Ad	bronchial
35	chr4:187611000-187614800	Strong transcription	Fetal Intestine Small	intestine
36	chr4:187611000-187618200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:187611200-187614200	Strong transcription	NHEK	skin
38	chr4:187611200-187614400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:187611200-187614400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:187611200-187614600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:187611400-187617200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:187611400-187617400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:187611600-187614400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:187611600-187614400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:187611600-187620600	Weak transcription	Fetal Lung	lung
46	chr4:187611800-187614400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:187611800-187614400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:187611800-187615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:187611800-187616600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:187612000-187614200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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