Variant report

Variant	rs12273399
Chromosome Location	chr11:120060102-120060103
allele	C/T
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	STAT3	chr11:120059946-120060146	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120059739..120061445-chr11:120064333..120066641,2	K562	blood:

Variant related genes	Relation type
TRIM29	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10892546	0.96[ASN][1000 genomes]
rs10892547	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278345	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12790943	0.95[EUR][1000 genomes]
rs12791292	0.95[EUR][1000 genomes]
rs2444239	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481599	0.96[ASN][1000 genomes]
rs507419	0.96[ASN][1000 genomes]
rs508205	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs508266	0.96[ASN][1000 genomes]
rs513638	0.96[ASN][1000 genomes]
rs7116997	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896693	0.83[AMR][1000 genomes];0.92[EUR][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120056000-120060200	Enhancers	Ovary	ovary
2	chr11:120056000-120064600	Enhancers	Fetal Stomach	stomach
3	chr11:120056200-120060800	Enhancers	Pancreas	Pancrea
4	chr11:120056400-120060200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:120057800-120063600	Enhancers	HepG2	liver
6	chr11:120058000-120068800	Weak transcription	Right Atrium	heart
7	chr11:120058200-120061600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:120058200-120063800	Weak transcription	Gastric	stomach
9	chr11:120058200-120068200	Weak transcription	Spleen	Spleen
10	chr11:120058400-120061200	Enhancers	Stomach Mucosa	stomach
11	chr11:120058400-120061400	Enhancers	Colonic Mucosa	Colon
12	chr11:120058400-120061800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr11:120058400-120062000	Weak transcription	Fetal Brain Male	brain
14	chr11:120058400-120066400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:120058400-120066600	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:120058400-120066800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:120058600-120060200	Enhancers	Fetal Kidney	kidney
18	chr11:120058600-120061600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:120058600-120061800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:120058600-120063800	Enhancers	Liver	Liver
21	chr11:120058800-120061800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:120058800-120062400	Enhancers	Fetal Muscle Leg	muscle
23	chr11:120058800-120063800	Weak transcription	Fetal Heart	heart
24	chr11:120059000-120060600	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr11:120059000-120061800	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr11:120059000-120062000	Weak transcription	Fetal Brain Female	brain
27	chr11:120059200-120061400	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr11:120059200-120062000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:120059400-120061600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:120059400-120062400	Weak transcription	Fetal Lung	lung
31	chr11:120059400-120067200	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:120059600-120060200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr11:120059800-120063600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:120060000-120061200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:120060000-120063600	Weak transcription	Esophagus	oesophagus
36	chr11:120060000-120067400	Weak transcription	Right Ventricle	heart

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