Variant report

Variant	rs9993044
Chromosome Location	chr4:16035913-16035914
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16033674..16036542-chr4:16143122..16145633,2	MCF-7	breast:
2	chr4:16035503..16038004-chr4:16044490..16046008,2	MCF-7	breast:
3	chr4:16026900..16029773-chr4:16034427..16036480,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10004142	1.00[AMR][1000 genomes]
rs10033234	1.00[AMR][1000 genomes]
rs10939641	1.00[EUR][1000 genomes]
rs11939896	1.00[EUR][1000 genomes]
rs2531146	1.00[EUR][1000 genomes]
rs28418606	1.00[AMR][1000 genomes]
rs28439648	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28477167	1.00[EUR][1000 genomes]
rs28524014	1.00[AMR][1000 genomes]
rs28545799	1.00[AMR][1000 genomes]
rs28595200	1.00[EUR][1000 genomes]
rs28725403	1.00[EUR][1000 genomes]
rs56357225	1.00[AMR][1000 genomes]
rs6816631	1.00[AMR][1000 genomes]
rs6828211	1.00[EUR][1000 genomes]
rs6847134	1.00[AMR][1000 genomes]
rs73801525	1.00[AMR][1000 genomes]
rs73801526	1.00[AMR][1000 genomes]
rs9993432	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16010800-16038600	Weak transcription	Placenta	Placenta
2	chr4:16025600-16045000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:16025600-16050600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:16025800-16036000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:16025800-16057600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:16026400-16066600	Weak transcription	Colonic Mucosa	Colon
7	chr4:16026400-16066600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:16027200-16039000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:16027600-16036000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:16030400-16036000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:16030400-16039000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:16031200-16040000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:16031600-16036000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:16031600-16036000	Weak transcription	A549	lung
15	chr4:16032400-16036600	Enhancers	Fetal Brain Male	brain
16	chr4:16032800-16039800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:16033000-16037600	Enhancers	HepG2	liver
18	chr4:16033000-16039800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:16033200-16039200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:16033200-16039600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:16033800-16036400	Enhancers	NH-A	brain
22	chr4:16033800-16038400	Weak transcription	Primary B cells from cord blood	blood
23	chr4:16034000-16036400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:16034000-16037000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:16034200-16036000	Weak transcription	Pancreas	Pancrea
26	chr4:16034200-16036600	Enhancers	Fetal Heart	heart
27	chr4:16034400-16036000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:16034400-16050400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:16034400-16072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:16034600-16036000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:16034600-16036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:16034600-16036200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:16034600-16036200	Weak transcription	Brain Anterior Caudate	brain
34	chr4:16034800-16036000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:16034800-16039000	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:16034800-16039800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr4:16035000-16036000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:16035000-16036000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:16035000-16036200	Weak transcription	Brain Germinal Matrix	brain
40	chr4:16035000-16039000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:16035000-16042800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:16035000-16044800	Weak transcription	Fetal Brain Female	brain
43	chr4:16035200-16036400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:16035200-16036400	Enhancers	Liver	Liver
45	chr4:16035200-16036800	Enhancers	Stomach Mucosa	stomach
46	chr4:16035200-16037000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:16035200-16050800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:16035200-16050800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:16035600-16036200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:16035600-16036200	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links