Variant report

Variant	rs61300933
Chromosome Location	chr4:48340366-48340367
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	POLR2A	chr4:48339762-48340392	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:48339667..48343042-chr4:48377720..48381453,4	K562	blood:
2	chr4:48338781..48341525-chr4:48341841..48345420,5	MCF-7	breast:
3	chr4:48270541..48273741-chr4:48337743..48341343,4	K562	blood:

Variant related genes	Relation type
SLAIN2	TF binding region
ENSG00000109171	Chromatin interaction
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58104048	0.83[AFR][1000 genomes]
rs58553267	1.00[AFR][1000 genomes]
rs7680001	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48330000-48342400	Weak transcription	Esophagus	oesophagus
2	chr4:48331600-48340800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:48333000-48341800	Weak transcription	A549	lung
4	chr4:48333000-48342400	Weak transcription	Left Ventricle	heart
5	chr4:48334000-48341400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:48334200-48342000	Weak transcription	Fetal Heart	heart
7	chr4:48334200-48342000	Weak transcription	HSMM	muscle
8	chr4:48334200-48342200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:48334200-48342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:48334400-48342400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:48334800-48341600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:48335800-48342000	Weak transcription	Fetal Kidney	kidney
13	chr4:48336400-48342000	Weak transcription	Osteobl	bone
14	chr4:48337400-48341600	Weak transcription	HSMMtube	muscle
15	chr4:48337600-48341400	Enhancers	K562	blood
16	chr4:48337600-48341800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:48337600-48342400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:48338200-48340600	Weak transcription	Psoas Muscle	Psoas
19	chr4:48338400-48341000	Weak transcription	NHLF	lung
20	chr4:48338400-48341600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:48338400-48341600	Weak transcription	Hela-S3	cervix
22	chr4:48338400-48342200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:48338400-48342200	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:48339000-48341000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:48339000-48341200	Enhancers	Fetal Thymus	thymus
26	chr4:48339000-48341200	Weak transcription	NHDF-Ad	bronchial
27	chr4:48339000-48342000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:48339000-48342200	Enhancers	HMEC	breast
29	chr4:48339200-48341200	Enhancers	Thymus	Thymus
30	chr4:48339200-48341600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:48339400-48340600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:48339400-48342000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:48339400-48342200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:48339400-48342400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:48339600-48340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:48339600-48340600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:48339600-48340600	Enhancers	Stomach Mucosa	stomach
38	chr4:48339600-48342000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:48339800-48340600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr4:48339800-48341600	Enhancers	Fetal Lung	lung
41	chr4:48339800-48342200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:48340000-48340600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr4:48340000-48340800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:48340000-48341400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:48340200-48340800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:48340200-48340800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:48340200-48341000	Enhancers	Placenta	Placenta
48	chr4:48340200-48341600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:48340200-48341600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:48340200-48342200	Weak transcription	GM12878-XiMat	blood

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