Variant report

Variant	rs57277091
Chromosome Location	chr12:123774870-123774871
allele	C/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	chr12:123774328-123774904	K562	blood:	n/a	n/a
2	POLR2A	chr12:123774846-123774898	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123716096..123717639-chr12:123774721..123776703,2	K562	blood:

Variant related genes	Relation type
ENSG00000270113	TF binding region
ENSG00000130921	Chromatin interaction

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

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

rs_ID	r²[population]
rs59975561	0.85[AFR][1000 genomes]
rs73410282	0.85[AFR][1000 genomes]
rs73410290	0.85[AFR][1000 genomes]
rs73410296	0.85[AFR][1000 genomes]
rs73421386	0.92[AFR][1000 genomes]
rs73423314	1.00[AFR][1000 genomes];1.00[AMR][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	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS 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	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123757200-123782600	Weak transcription	Right Atrium	heart
2	chr12:123763200-123775800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:123766200-123780000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:123769600-123775000	Weak transcription	HepG2	liver
5	chr12:123769800-123778800	Weak transcription	Fetal Kidney	kidney
6	chr12:123770200-123776800	Weak transcription	Spleen	Spleen
7	chr12:123770200-123778400	Weak transcription	Fetal Lung	lung
8	chr12:123771200-123777800	Weak transcription	Psoas Muscle	Psoas
9	chr12:123771400-123775000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:123771400-123777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:123771400-123777600	Weak transcription	Right Ventricle	heart
12	chr12:123771400-123777800	Weak transcription	Brain Angular Gyrus	brain
13	chr12:123771600-123776800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:123771600-123799800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:123771800-123776600	Weak transcription	NHLF	lung
16	chr12:123771800-123777000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:123771800-123777200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:123771800-123777600	Weak transcription	Esophagus	oesophagus
19	chr12:123771800-123777800	Weak transcription	Ovary	ovary
20	chr12:123771800-123779800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:123771800-123790800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:123772000-123776400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:123772000-123776600	Weak transcription	Gastric	stomach
24	chr12:123772000-123777000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:123772000-123777400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:123772000-123778200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:123772200-123775600	Strong transcription	Fetal Intestine Small	intestine
28	chr12:123772200-123776600	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:123772200-123782000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:123772400-123775200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:123772400-123777000	Weak transcription	HMEC	breast
32	chr12:123772400-123799800	Strong transcription	Fetal Stomach	stomach
33	chr12:123772400-123847800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:123772600-123776600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:123772800-123775400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:123772800-123775600	Weak transcription	HSMM	muscle
37	chr12:123772800-123776400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:123772800-123777800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:123772800-123789400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:123772800-123821000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:123773000-123777000	Weak transcription	Colonic Mucosa	Colon
42	chr12:123773000-123777000	Weak transcription	NHDF-Ad	bronchial
43	chr12:123773000-123835200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:123773200-123775400	Weak transcription	Hela-S3	cervix
45	chr12:123773200-123778200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:123773200-123778200	Strong transcription	A549	lung
47	chr12:123773200-123785000	Strong transcription	Primary T cells from cord blood	blood
48	chr12:123773200-123830600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:123773200-123834200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:123773200-123835000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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