Variant report

Variant	rs12507519
Chromosome Location	chr4:106083884-106083885
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106082088..106084458-chr4:106094804..106097653,2	K562	blood:
2	chr4:106066858..106068608-chr4:106083619..106085703,2	K562	blood:
3	chr4:106066054..106072074-chr4:106082791..106088077,10	MCF-7	breast:
4	chr4:106083619..106085487-chr4:106089285..106091911,2	K562	blood:

Variant related genes	Relation type
ENSG00000168769	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12506248	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1490581	1.00[AFR][1000 genomes]
rs17430132	1.00[AFR][1000 genomes]
rs2214408	1.00[AFR][1000 genomes]
rs2866773	1.00[AFR][1000 genomes]
rs4698933	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106069400-106087600	Weak transcription	Lung	lung
2	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
3	chr4:106069600-106102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:106069800-106101000	Weak transcription	HSMM	muscle
5	chr4:106069800-106101800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:106070400-106107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:106070400-106111600	Weak transcription	Placenta	Placenta
8	chr4:106071000-106100800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:106071800-106084400	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:106072600-106100600	Weak transcription	Adipose Nuclei	Adipose
11	chr4:106076000-106084400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:106076200-106089200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:106076200-106092800	Weak transcription	Psoas Muscle	Psoas
14	chr4:106076200-106093000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:106077000-106100800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:106077000-106112000	Weak transcription	Aorta	Aorta
17	chr4:106078000-106092200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:106078000-106112800	Weak transcription	Fetal Kidney	kidney
19	chr4:106080200-106085200	Weak transcription	Primary B cells from cord blood	blood
20	chr4:106080200-106091400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:106080400-106088800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:106080400-106088800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:106080600-106086400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:106080600-106101800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:106080600-106102800	Weak transcription	NHEK	skin
26	chr4:106080600-106105800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:106080600-106107800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:106080800-106085600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:106080800-106085800	Weak transcription	Left Ventricle	heart
30	chr4:106080800-106091000	Weak transcription	Ovary	ovary
31	chr4:106080800-106095200	Weak transcription	Fetal Intestine Large	intestine
32	chr4:106081000-106087000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:106081000-106089400	Weak transcription	Fetal Intestine Small	intestine
34	chr4:106082400-106084000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr4:106082800-106084600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:106083000-106084200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:106083000-106086200	Enhancers	Fetal Heart	heart
38	chr4:106083200-106084000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr4:106083200-106084800	Enhancers	Brain Germinal Matrix	brain
40	chr4:106083200-106085200	Enhancers	Brain Hippocampus Middle	brain
41	chr4:106083400-106084000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr4:106083400-106084200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:106083400-106084200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr4:106083400-106086000	Enhancers	Fetal Lung	lung
45	chr4:106083400-106091400	Weak transcription	Primary T cells from cord blood	blood
46	chr4:106083600-106084000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr4:106083600-106084600	Weak transcription	Fetal Brain Female	brain
48	chr4:106083600-106089200	Weak transcription	Small Intestine	intestine
49	chr4:106083600-106097200	ZNF genes & repeats	GM12878-XiMat	blood
50	chr4:106083600-106100800	Weak transcription	Duodenum Mucosa	Duodenum

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