Variant report

Variant	rs1961973
Chromosome Location	chr4:48179347-48179348
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48177121..48180289-chr4:48181668..48184747,3	MCF-7	breast:
2	chr4:48169322..48172122-chr4:48178324..48180864,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11931912	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17655249	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3805180	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4446283	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45598338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62309332	0.96[AFR][1000 genomes];0.97[EUR][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	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	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
6	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
2	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
3	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
5	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
6	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
7	chr4:48166400-48179600	Weak transcription	Thymus	Thymus
8	chr4:48169000-48180600	Weak transcription	Esophagus	oesophagus
9	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:48170600-48181200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:48171200-48181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:48173800-48188400	Weak transcription	Lung	lung
13	chr4:48175600-48180600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:48175800-48191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:48176000-48180600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:48176000-48185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:48176000-48185200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:48176000-48185400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:48176200-48185200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:48176600-48179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:48177400-48179400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:48177600-48182200	Weak transcription	HSMM	muscle
23	chr4:48177800-48181600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr4:48178000-48179400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:48178000-48180000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:48178000-48180800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:48178200-48179600	Enhancers	GM12878-XiMat	blood
29	chr4:48178200-48180000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:48178200-48180000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:48178200-48182200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:48178200-48185200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:48178800-48180600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:48178800-48185400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:48179000-48179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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