Variant report

Variant	rs6814614
Chromosome Location	chr4:48175319-48175320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48173412..48176298-chr4:48428298..48430775,2	K562	blood:
2	chr4:48171039..48173617-chr4:48175205..48177661,3	MCF-7	breast:
3	chr4:48174022..48176386-chr4:48181420..48183923,2	K562	blood:
4	chr4:48168015..48170294-chr4:48173927..48176191,2	K562	blood:
5	chr4:48175041..48176757-chr4:48255815..48257585,2	K562	blood:
6	chr4:48175263..48177129-chr4:48197621..48199593,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10016563	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021919	0.90[EUR][1000 genomes]
rs10033663	0.80[EUR][1000 genomes]
rs12331972	1.00[ASN][1000 genomes]
rs17470892	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17470919	0.87[EUR][1000 genomes]
rs17471024	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574371	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17574399	0.89[EUR][1000 genomes]
rs2456928	0.89[EUR][1000 genomes]
rs2661535	0.88[EUR][1000 genomes]
rs28521484	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28702422	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28740900	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3749503	0.88[EUR][1000 genomes]
rs55683170	0.80[EUR][1000 genomes]
rs55809586	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6814046	0.96[EUR][1000 genomes]
rs6837324	0.89[AFR][1000 genomes]
rs6845196	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244489	0.85[EUR][1000 genomes]
rs7654182	0.88[EUR][1000 genomes]
rs7654466	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682890	0.88[EUR][1000 genomes]
rs7684558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955692	0.80[EUR][1000 genomes]
rs996222	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs996223	0.89[EUR][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1011820	chr4:48170669-48186729	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv819982	chr4:48173420-48178259	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1011366	chr4:48173947-48186644	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1005668	chr4:48173947-48186729	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
3	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
4	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
5	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
7	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
9	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
11	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:48166400-48179600	Weak transcription	Thymus	Thymus
13	chr4:48167000-48175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:48167200-48175400	Weak transcription	Placenta	Placenta
15	chr4:48169000-48180600	Weak transcription	Esophagus	oesophagus
16	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:48170600-48176800	Weak transcription	Liver	Liver
18	chr4:48170600-48181200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:48171200-48181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:48171400-48175400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:48172000-48175400	Genic enhancers	GM12878-XiMat	blood
22	chr4:48172200-48175600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:48172200-48176600	Weak transcription	Fetal Heart	heart
24	chr4:48172400-48177400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:48172600-48177400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:48173400-48177000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:48173800-48188400	Weak transcription	Lung	lung
28	chr4:48174400-48176600	Enhancers	HSMM	muscle
29	chr4:48174400-48178000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr4:48174600-48175400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:48174600-48175800	Enhancers	Stomach Mucosa	stomach
32	chr4:48174600-48176000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:48174800-48175800	Enhancers	Primary hematopoietic stem cells	blood
34	chr4:48174800-48176400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:48175000-48175400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:48175000-48175400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:48175000-48175800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:48175000-48176000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:48175000-48176000	Enhancers	Rectal Smooth Muscle	rectum
40	chr4:48175000-48176000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr4:48175000-48176200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:48175000-48176400	Enhancers	Osteobl	bone
43	chr4:48175200-48175400	Flanking Active TSS	NH-A	brain
44	chr4:48175200-48175600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:48175200-48175600	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr4:48175200-48175600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:48175200-48175600	Flanking Active TSS	HSMMtube	muscle
48	chr4:48175200-48175600	Flanking Active TSS	K562	blood
49	chr4:48175200-48175800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:48175200-48175800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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