Variant report

Variant	rs12645244
Chromosome Location	chr4:110738842-110738843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:110738833-110739044	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr4:110738800-110738990	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr4:110735827-110739409	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr4:110738301-110739146	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:109570584..109572425-chr4:110736914..110740419,3	K562	blood:
2	chr4:110650210..110652125-chr4:110738761..110740839,2	K562	blood:
3	chr4:110683032..110685527-chr4:110738470..110740917,2	K562	blood:
4	chr4:110622297..110625771-chr4:110735143..110738902,5	K562	blood:

Variant related genes	Relation type
ENSG00000272795	TF binding region
ENSG00000123739	Chromatin interaction
ENSG00000205403	Chromatin interaction
ENSG00000198856	Chromatin interaction
ENSG00000138794	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12508007	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17040869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17040920	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61744555	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61747002	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110736000-110739200	Active TSS	GM12878-XiMat	blood
2	chr4:110737600-110739000	Transcr. at gene 5' and 3'	K562	blood
3	chr4:110737600-110739200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:110737600-110743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:110737600-110745400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:110737600-110745800	Weak transcription	Spleen	Spleen
7	chr4:110737600-110770600	Weak transcription	Aorta	Aorta
8	chr4:110737800-110739000	Flanking Active TSS	HepG2	liver
9	chr4:110737800-110740000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:110737800-110740600	Weak transcription	Left Ventricle	heart
11	chr4:110737800-110741800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:110737800-110743400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:110737800-110746400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:110737800-110746600	Weak transcription	Esophagus	oesophagus
15	chr4:110737800-110748000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:110737800-110753200	Weak transcription	Lung	lung
17	chr4:110738000-110739000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:110738000-110739000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr4:110738000-110739000	Enhancers	Fetal Brain Male	brain
20	chr4:110738000-110739200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:110738000-110739600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:110738000-110739600	Weak transcription	Placenta	Placenta
23	chr4:110738000-110739800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr4:110738000-110741400	Weak transcription	Primary B cells from cord blood	blood
25	chr4:110738000-110741800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:110738000-110743400	Weak transcription	Fetal Stomach	stomach
27	chr4:110738000-110747200	Weak transcription	Gastric	stomach
28	chr4:110738000-110748400	Weak transcription	Small Intestine	intestine
29	chr4:110738000-110760800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:110738200-110739000	Enhancers	Fetal Brain Female	brain
31	chr4:110738200-110739000	Enhancers	Fetal Intestine Small	intestine
32	chr4:110738200-110739200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:110738200-110739400	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:110738200-110739600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:110738200-110739600	Weak transcription	Fetal Intestine Large	intestine
36	chr4:110738200-110739800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:110738200-110742200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:110738200-110743400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:110738200-110743400	Weak transcription	Thymus	Thymus
40	chr4:110738200-110746400	Weak transcription	Colonic Mucosa	Colon
41	chr4:110738200-110747800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:110738400-110739000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:110738400-110739000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
44	chr4:110738400-110739000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:110738400-110739000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:110738400-110739200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:110738400-110739200	Weak transcription	Liver	Liver
48	chr4:110738400-110739200	Genic enhancers	HSMM	muscle
49	chr4:110738400-110739200	Genic enhancers	NH-A	brain
50	chr4:110738400-110739400	Weak transcription	Primary B cells from peripheral blood	blood

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