Variant report

Variant	rs73873394
Chromosome Location	chr4:186729520-186729521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186725458..186728361-chr4:186729374..186731858,3	K562	blood:
2	chr4:186725458..186728006-chr4:186729374..186731176,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10013461	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28582258	0.82[AMR][1000 genomes]
rs73873386	0.82[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	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv1015931	chr4:186683165-186734480	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186714600-186729800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:186715200-186729800	Weak transcription	Ovary	ovary
3	chr4:186716200-186731800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:186717200-186730200	Weak transcription	Fetal Intestine Large	intestine
5	chr4:186718200-186730400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:186718200-186730400	Weak transcription	Gastric	stomach
7	chr4:186719000-186729600	Weak transcription	Fetal Brain Female	brain
8	chr4:186719000-186731800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:186720800-186730200	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:186722000-186729800	Weak transcription	Fetal Stomach	stomach
11	chr4:186724800-186731800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:186725600-186729600	Weak transcription	Fetal Kidney	kidney
13	chr4:186725600-186731800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:186726400-186733600	Active TSS	Right Atrium	heart
15	chr4:186726400-186733800	Active TSS	Right Ventricle	heart
16	chr4:186726800-186730800	Weak transcription	Brain Germinal Matrix	brain
17	chr4:186727000-186731800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:186727200-186730200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:186727200-186730200	Weak transcription	Fetal Lung	lung
20	chr4:186727200-186730400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:186727200-186732800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:186727400-186729600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:186727400-186730200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:186727400-186730200	Weak transcription	Pancreas	Pancrea
25	chr4:186727400-186730400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:186727400-186730800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:186727400-186731400	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:186727400-186732000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:186727600-186729600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:186727600-186729800	Weak transcription	Fetal Brain Male	brain
31	chr4:186727600-186731800	Weak transcription	Stomach Mucosa	stomach
32	chr4:186728000-186729800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:186728400-186734400	Active TSS	Liver	Liver
34	chr4:186728600-186729600	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:186728600-186729800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:186728600-186730400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:186728600-186733800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:186728800-186729600	Weak transcription	Brain Anterior Caudate	brain
39	chr4:186728800-186729800	Weak transcription	GM12878-XiMat	blood
40	chr4:186728800-186730200	Weak transcription	Left Ventricle	heart
41	chr4:186729000-186729800	Weak transcription	Fetal Intestine Small	intestine
42	chr4:186729000-186730200	Active TSS	HepG2	liver
43	chr4:186729200-186731000	Active TSS	Fetal Heart	heart
44	chr4:186729400-186729800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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