Variant report

Variant	rs9994079
Chromosome Location	chr4:57212264-57212265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57209917..57212599-chr4:57213686..57216147,2	MCF-7	breast:
2	chr4:57210332..57213092-chr4:57213871..57215383,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10001639	1.00[AMR][1000 genomes]
rs10003484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10007966	1.00[AFR][1000 genomes]
rs10015839	1.00[AMR][1000 genomes]
rs10016054	1.00[AMR][1000 genomes]
rs10018091	1.00[AMR][1000 genomes]
rs10018803	1.00[AMR][1000 genomes]
rs10020554	1.00[AMR][1000 genomes]
rs10222713	1.00[AMR][1000 genomes]
rs13434512	1.00[AMR][1000 genomes]
rs28398277	1.00[AMR][1000 genomes]
rs28401187	1.00[AMR][1000 genomes]
rs28501253	1.00[AFR][1000 genomes]
rs28503748	1.00[AMR][1000 genomes]
rs28552845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28558611	0.82[AFR][1000 genomes]
rs28571922	1.00[AMR][1000 genomes]
rs28623333	1.00[AFR][1000 genomes]
rs28651722	1.00[AFR][1000 genomes]
rs28653752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28891686	1.00[AMR][1000 genomes]
rs9993594	1.00[AMR][1000 genomes]
rs9994122	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	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57167800-57218600	Weak transcription	Small Intestine	intestine
2	chr4:57177600-57215400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:57190400-57214400	Weak transcription	Brain Anterior Caudate	brain
4	chr4:57190600-57214600	Weak transcription	Brain Substantia Nigra	brain
5	chr4:57190600-57252400	Weak transcription	Colonic Mucosa	Colon
6	chr4:57193600-57213000	Weak transcription	Left Ventricle	heart
7	chr4:57195000-57214400	Weak transcription	Placenta	Placenta
8	chr4:57195200-57238000	Weak transcription	HUVEC	blood vessel
9	chr4:57196000-57238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:57198800-57214400	Weak transcription	Gastric	stomach
11	chr4:57202600-57221400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:57202800-57252400	Weak transcription	NHDF-Ad	bronchial
13	chr4:57203000-57252600	Weak transcription	Right Ventricle	heart
14	chr4:57203200-57215000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:57203200-57215600	Weak transcription	Pancreas	Pancrea
16	chr4:57203200-57235200	Weak transcription	Osteobl	bone
17	chr4:57203200-57251800	Weak transcription	A549	lung
18	chr4:57203400-57212800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:57203400-57252400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:57203600-57213600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:57203600-57213600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:57203600-57214400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:57203600-57229400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:57204000-57216800	Weak transcription	Hela-S3	cervix
25	chr4:57204000-57252200	Weak transcription	NH-A	brain
26	chr4:57204200-57212800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:57204200-57213400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:57204200-57213800	Weak transcription	Aorta	Aorta
29	chr4:57204200-57213800	Weak transcription	Lung	lung
30	chr4:57204200-57214400	Weak transcription	Primary B cells from cord blood	blood
31	chr4:57204200-57214400	Weak transcription	Fetal Thymus	thymus
32	chr4:57204200-57214400	Weak transcription	Dnd41	blood
33	chr4:57204200-57222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:57204200-57227200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:57204200-57252200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:57204400-57212600	Weak transcription	Primary T cells from cord blood	blood
37	chr4:57204400-57214400	Weak transcription	Brain Angular Gyrus	brain
38	chr4:57204800-57212800	Weak transcription	Fetal Stomach	stomach
39	chr4:57204800-57213000	Weak transcription	Fetal Brain Female	brain
40	chr4:57204800-57214400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:57204800-57214400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:57204800-57214400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:57204800-57214400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:57204800-57214400	Weak transcription	Stomach Mucosa	stomach
45	chr4:57204800-57214800	Weak transcription	HSMM	muscle
46	chr4:57204800-57215200	Weak transcription	HSMMtube	muscle
47	chr4:57204800-57215400	Weak transcription	Psoas Muscle	Psoas
48	chr4:57204800-57223400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:57204800-57235400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr4:57204800-57251800	Weak transcription	Fetal Brain Male	brain

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