Variant report

Variant	rs72995605
Chromosome Location	chr4:174139755-174139756
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174139419..174141243-chr4:174143719..174145852,2	K562	blood:
2	chr4:174134446..174136321-chr4:174137572..174139819,3	MCF-7	breast:
3	chr4:174137352..174140088-chr4:174184722..174187553,2	K562	blood:
4	chr4:174138653..174140508-chr4:174254407..174256256,2	K562	blood:
5	chr4:174134665..174137165-chr4:174138818..174141532,2	K562	blood:
6	chr4:174138498..174140984-chr4:174142749..174145611,3	K562	blood:

Variant related genes	Relation type
ENSG00000164104	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11932721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942280	1.00[ASN][1000 genomes]
rs13102038	0.93[ASN][1000 genomes]
rs13117810	0.93[ASN][1000 genomes]
rs13142524	1.00[ASN][1000 genomes]
rs17059255	0.85[ASN][1000 genomes]
rs28651471	0.85[ASN][1000 genomes]
rs34627061	1.00[EUR][1000 genomes]
rs56774970	1.00[EUR][1000 genomes]
rs57130388	0.82[AMR][1000 genomes]
rs57715340	0.82[AMR][1000 genomes]
rs58146016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59098468	1.00[EUR][1000 genomes]
rs60388714	0.82[AMR][1000 genomes]
rs60699343	0.82[AMR][1000 genomes]
rs61296981	1.00[EUR][1000 genomes]
rs61445751	1.00[EUR][1000 genomes]
rs61699413	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6553687	0.85[ASN][1000 genomes]
rs6819376	0.86[EUR][1000 genomes]
rs6840087	0.85[ASN][1000 genomes]
rs72993773	1.00[EUR][1000 genomes]
rs72993775	0.82[AMR][1000 genomes]
rs72993778	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993786	0.82[AMR][1000 genomes]
rs72993792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993793	0.82[AMR][1000 genomes]
rs72994536	1.00[EUR][1000 genomes]
rs72994576	1.00[EUR][1000 genomes]
rs72994587	1.00[EUR][1000 genomes]
rs72995608	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72995610	0.82[AMR][1000 genomes]
rs72995612	0.82[AMR][1000 genomes]
rs72997695	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72997696	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs934358	0.80[ASN][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	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv518900	chr4:174130503-174142874	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174104000-174157200	Weak transcription	Ovary	ovary
2	chr4:174112800-174140000	Weak transcription	Aorta	Aorta
3	chr4:174114200-174157800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:174114600-174155000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:174123600-174174200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:174125600-174144800	Weak transcription	Primary B cells from cord blood	blood
7	chr4:174126000-174156400	Weak transcription	Brain Anterior Caudate	brain
8	chr4:174126400-174149800	Weak transcription	Esophagus	oesophagus
9	chr4:174126600-174155200	Weak transcription	GM12878-XiMat	blood
10	chr4:174126600-174163400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr4:174127000-174148600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:174127000-174163600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:174127000-174163600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:174127400-174149000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:174128200-174169200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:174131200-174147800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:174131800-174140200	Weak transcription	Thymus	Thymus
18	chr4:174131800-174156400	Weak transcription	Fetal Intestine Small	intestine
19	chr4:174131800-174168600	Weak transcription	Gastric	stomach
20	chr4:174132800-174150600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr4:174135800-174146800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:174136600-174158400	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:174136800-174157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:174137200-174143200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:174138200-174139800	Enhancers	Stomach Mucosa	stomach
26	chr4:174138200-174140000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:174138200-174140400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:174138200-174140400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:174138200-174140400	Enhancers	NHEK	skin
30	chr4:174138200-174140600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:174138200-174140600	Enhancers	Dnd41	blood
32	chr4:174138400-174139800	Flanking Active TSS	A549	lung
33	chr4:174138400-174140000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:174138400-174140400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:174138400-174140400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:174138400-174140400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:174138400-174140400	Enhancers	HMEC	breast
38	chr4:174138400-174140400	Enhancers	Osteobl	bone
39	chr4:174138400-174140600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:174138400-174140600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:174138400-174140600	Enhancers	Hela-S3	cervix
42	chr4:174138400-174140600	Enhancers	HSMM	muscle
43	chr4:174138400-174140600	Enhancers	HUVEC	blood vessel
44	chr4:174138400-174140800	Flanking Active TSS	K562	blood
45	chr4:174138600-174140000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:174138600-174140000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:174138600-174140400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr4:174138600-174140600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:174138600-174140600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:174138800-174140200	Enhancers	NHLF	lung

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