Variant report

Variant	rs73240221
Chromosome Location	chr4:20703221-20703222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20702888..20705883-chr4:20707634..20710929,3	K562	blood:
2	chr4:20702290..20703806-chr4:20728599..20731005,2	K562	blood:
3	chr4:20702272..20703966-chr4:20709575..20711144,2	MCF-7	breast:
4	chr4:20702290..20704847-chr4:20728043..20731005,3	K562	blood:
5	chr4:20693086..20698959-chr4:20699230..20704175,9	K562	blood:

Variant related genes	Relation type
ENSG00000163138	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11723649	1.00[AMR][1000 genomes]
rs17552929	1.00[AMR][1000 genomes]
rs73240222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
3	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20701000-20703400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:20701200-20703400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:20701400-20703400	Active TSS	A549	lung
4	chr4:20701800-20703400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr4:20702400-20703400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:20702400-20703400	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr4:20702400-20703400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr4:20702400-20703600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:20702400-20722600	Weak transcription	Spleen	Spleen
10	chr4:20702600-20703400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:20702600-20703400	Enhancers	Gastric	stomach
12	chr4:20702600-20703600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:20702600-20703600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:20702600-20703600	Flanking Active TSS	Dnd41	blood
15	chr4:20702600-20706000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:20702600-20706200	Weak transcription	Lung	lung
17	chr4:20702600-20717200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:20702800-20703400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr4:20702800-20703400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr4:20702800-20703400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:20702800-20703400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr4:20702800-20703400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:20702800-20703600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:20702800-20703600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:20702800-20703600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:20702800-20703600	Enhancers	Colon Smooth Muscle	Colon
27	chr4:20702800-20703600	Enhancers	Small Intestine	intestine
28	chr4:20702800-20703600	Flanking Active TSS	NHEK	skin
29	chr4:20702800-20706000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:20702800-20706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:20702800-20707400	Weak transcription	Aorta	Aorta
32	chr4:20703000-20703400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr4:20703000-20703400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:20703000-20703400	Enhancers	Liver	Liver
35	chr4:20703000-20703400	Enhancers	Brain Cingulate Gyrus	brain
36	chr4:20703000-20703400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:20703000-20703400	Enhancers	Fetal Intestine Large	intestine
38	chr4:20703000-20703400	Enhancers	Fetal Intestine Small	intestine
39	chr4:20703000-20703400	Enhancers	Fetal Muscle Leg	muscle
40	chr4:20703000-20703400	Enhancers	Fetal Stomach	stomach
41	chr4:20703000-20703400	Enhancers	Pancreas	Pancrea
42	chr4:20703000-20703400	Enhancers	HUVEC	blood vessel
43	chr4:20703000-20703400	Enhancers	NHDF-Ad	bronchial
44	chr4:20703000-20703400	Enhancers	Osteobl	bone
45	chr4:20703000-20703600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:20703000-20703600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr4:20703000-20703600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr4:20703000-20703600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:20703000-20703600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:20703000-20703600	Enhancers	Brain Germinal Matrix	brain

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