Variant report

Variant	rs4728179
Chromosome Location	chr7:129469641-129469642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129303978..129305426-chr7:129469553..129470544,8	K562	blood:
2	chr7:129469301..129471027-chr7:129477016..129479280,2	MCF-7	breast:
3	chr7:129318799..129320393-chr7:129467195..129470045,2	K562	blood:
4	chr7:129467528..129469969-chr7:129649914..129652175,3	MCF-7	breast:
5	chr7:129465763..129467512-chr7:129467735..129470263,2	K562	blood:
6	chr7:129417511..129419383-chr7:129468534..129470658,2	MCF-7	breast:
7	chr7:129468198..129471142-chr7:129597545..129600356,2	MCF-7	breast:
8	chr7:129468043..129473404-chr7:129589451..129593815,6	MCF-7	breast:
9	chr7:129465218..129466979-chr7:129467217..129470017,2	MCF-7	breast:
10	chr7:129468028..129470584-chr7:129477737..129479272,2	K562	blood:
11	chr7:129356894..129359708-chr7:129468189..129470205,2	K562	blood:
12	chr7:129464031..129466452-chr7:129468201..129471315,4	MCF-7	breast:
13	chr7:129469305..129470152-chr7:129649143..129649802,2	MCF-7	breast:
14	chr7:128858121..128859068-chr7:129469579..129470084,2	K562	blood:
15	chr7:129469388..129470475-chr7:129649870..129651321,7	MCF-7	breast:
16	chr7:129468911..129471466-chr7:129477824..129480519,2	MCF-7	breast:
17	chr7:129318172..129320393-chr7:129467195..129470045,3	K562	blood:
18	chr7:129419635..129422610-chr7:129468261..129471456,4	MCF-7	breast:
19	chr7:129469516..129470469-chr7:129650343..129651226,4	K562	blood:
20	chr7:129415990..129422927-chr7:129459994..129470946,26	MCF-7	breast:
21	chr7:128983034..128983886-chr7:129469504..129470107,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244036	Chromatin interaction
ENSG00000186591	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16873739	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2280680	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2727456	0.94[ASN][1000 genomes]
rs3807118	0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3807119	0.90[CEU][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4731633	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4731634	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731636	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62491490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62491495	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62491500	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62491519	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62491520	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62491531	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62491534	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62491535	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62491538	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62491540	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62491541	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129466000-129469800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:129466000-129470000	Weak transcription	Gastric	stomach
3	chr7:129466000-129471200	Weak transcription	Primary T cells from cord blood	blood
4	chr7:129466000-129471600	Weak transcription	Thymus	Thymus
5	chr7:129466200-129469800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:129466200-129469800	Weak transcription	Aorta	Aorta
7	chr7:129466200-129469800	Weak transcription	Colonic Mucosa	Colon
8	chr7:129466200-129469800	Weak transcription	Fetal Intestine Large	intestine
9	chr7:129466200-129469800	Weak transcription	Fetal Kidney	kidney
10	chr7:129466200-129469800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:129466200-129469800	Weak transcription	Small Intestine	intestine
12	chr7:129466200-129470000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:129466200-129470000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:129466200-129470400	Weak transcription	Fetal Brain Female	brain
15	chr7:129466200-129475200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:129466200-129483800	Weak transcription	Dnd41	blood
17	chr7:129466400-129469800	Weak transcription	Primary B cells from cord blood	blood
18	chr7:129466400-129469800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:129466400-129469800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:129466400-129469800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:129466400-129469800	Weak transcription	GM12878-XiMat	blood
22	chr7:129466400-129470000	Weak transcription	Liver	Liver
23	chr7:129466400-129470000	Weak transcription	Psoas Muscle	Psoas
24	chr7:129466400-129470000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:129466400-129483400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:129466600-129469800	Weak transcription	Placenta	Placenta
27	chr7:129467000-129471200	Weak transcription	Hela-S3	cervix
28	chr7:129467200-129470600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:129468200-129472000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:129468400-129469800	Enhancers	Ovary	ovary
31	chr7:129468600-129469800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:129468800-129469800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:129468800-129470000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:129468800-129470000	Enhancers	Fetal Muscle Trunk	muscle
35	chr7:129468800-129470200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr7:129468800-129470400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:129468800-129471200	Enhancers	Fetal Muscle Leg	muscle
38	chr7:129468800-129472200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr7:129468800-129472200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:129469000-129469800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:129469000-129469800	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:129469000-129470000	Enhancers	Esophagus	oesophagus
43	chr7:129469000-129470000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:129469000-129470400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:129469000-129470400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr7:129469000-129472000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:129469000-129472400	Enhancers	Right Ventricle	heart
48	chr7:129469200-129469800	Enhancers	Brain Hippocampus Middle	brain
49	chr7:129469200-129469800	Strong transcription	Fetal Intestine Small	intestine
50	chr7:129469200-129469800	Enhancers	Osteobl	bone

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