Variant report

Variant	rs57378115
Chromosome Location	chr3:120464104-120464105
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	chr3:120460738-120464825	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120459655..120461211-chr3:120463025..120465017,2	MCF-7	breast:
2	chr3:120457859..120461231-chr3:120462100..120464512,3	K562	blood:

Variant related genes	Relation type
RABL3	TF binding region

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

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

rs_ID	r²[population]
rs72962654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72962660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72962662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active 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 miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120462400-120471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:120462600-120464400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr3:120462600-120464400	Enhancers	Liver	Liver
4	chr3:120462600-120495200	Weak transcription	Aorta	Aorta
5	chr3:120462800-120464800	Enhancers	Adipose Nuclei	Adipose
6	chr3:120462800-120464800	Enhancers	HUVEC	blood vessel
7	chr3:120462800-120465400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:120462800-120468600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:120462800-120469400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:120462800-120469400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:120462800-120469400	Weak transcription	Placenta	Placenta
12	chr3:120462800-120469400	Weak transcription	Lung	lung
13	chr3:120462800-120469400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:120462800-120469400	Weak transcription	HSMMtube	muscle
15	chr3:120462800-120472200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:120462800-120473000	Weak transcription	Brain Anterior Caudate	brain
17	chr3:120462800-120483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:120462800-120485600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:120462800-120499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:120462800-120500000	Weak transcription	Gastric	stomach
21	chr3:120462800-120503000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:120463000-120464200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:120463000-120464400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:120463000-120465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:120463000-120469200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr3:120463000-120469200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:120463000-120469400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:120463000-120469400	Weak transcription	Primary T cells from cord blood	blood
29	chr3:120463000-120469400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr3:120463000-120469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:120463000-120469400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:120463000-120469400	Weak transcription	Esophagus	oesophagus
33	chr3:120463000-120469400	Weak transcription	Fetal Stomach	stomach
34	chr3:120463000-120469400	Weak transcription	Fetal Thymus	thymus
35	chr3:120463000-120469400	Weak transcription	Left Ventricle	heart
36	chr3:120463000-120469400	Weak transcription	Ovary	ovary
37	chr3:120463000-120469400	Weak transcription	Psoas Muscle	Psoas
38	chr3:120463000-120469400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr3:120463000-120469400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:120463000-120469400	Weak transcription	HSMM	muscle
41	chr3:120463000-120469400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr3:120463000-120470000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:120463000-120472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:120463000-120472000	Weak transcription	Stomach Mucosa	stomach
45	chr3:120463000-120472600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:120463000-120473200	Weak transcription	NHLF	lung
47	chr3:120463000-120477800	Weak transcription	Spleen	Spleen
48	chr3:120463000-120482400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:120463000-120484800	Weak transcription	K562	blood
50	chr3:120463000-120485600	Weak transcription	Pancreas	Pancrea

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