Variant report

Variant	rs9996851
Chromosome Location	chr4:99503311-99503312
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99495926..99497504-chr4:99501942..99504413,2	MCF-7	breast:
2	chr4:99502636..99505543-chr4:99509229..99510735,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10021234	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10023449	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10029405	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11097622	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940430	0.91[ASN][1000 genomes]
rs1358546	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358547	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534554	0.81[ASN][1000 genomes]
rs1534555	0.80[ASN][1000 genomes]
rs1573478	0.81[ASN][1000 genomes]
rs1893713	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2866016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4699354	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6532751	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7678323	0.90[ASN][1000 genomes]
rs883619	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
2	chr4:99490800-99506600	Weak transcription	Esophagus	oesophagus
3	chr4:99490800-99509000	Weak transcription	HSMM	muscle
4	chr4:99491000-99503400	Weak transcription	Thymus	Thymus
5	chr4:99496800-99504600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:99497200-99510200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:99498600-99503800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:99498600-99508000	Enhancers	Brain Anterior Caudate	brain
9	chr4:99498800-99503400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:99498800-99504000	Enhancers	Fetal Stomach	stomach
11	chr4:99498800-99507800	Enhancers	Brain Hippocampus Middle	brain
12	chr4:99499200-99504000	Enhancers	Brain Germinal Matrix	brain
13	chr4:99500000-99508000	Weak transcription	Spleen	Spleen
14	chr4:99500200-99503600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr4:99500400-99504200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:99500400-99504200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:99500400-99505400	Enhancers	Fetal Brain Male	brain
18	chr4:99500400-99508000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:99500600-99504200	Weak transcription	HMEC	breast
20	chr4:99500600-99504200	Weak transcription	NHEK	skin
21	chr4:99500800-99508000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:99501400-99503400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:99501800-99504600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:99501800-99504600	Weak transcription	Fetal Brain Female	brain
25	chr4:99501800-99504800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:99501800-99507000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:99502000-99503400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:99502000-99507000	Weak transcription	Fetal Heart	heart
29	chr4:99502000-99507000	Weak transcription	Fetal Lung	lung
30	chr4:99502200-99504800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:99502200-99508200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:99502400-99503400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:99502400-99504000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:99502400-99507000	Weak transcription	NHDF-Ad	bronchial
35	chr4:99502600-99503800	Weak transcription	Stomach Mucosa	stomach
36	chr4:99502600-99504800	Weak transcription	Brain Angular Gyrus	brain
37	chr4:99502600-99505000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:99502600-99507200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:99502600-99507400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:99502600-99508000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:99502600-99508000	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:99502800-99503800	Weak transcription	Fetal Kidney	kidney
43	chr4:99502800-99507800	Weak transcription	NH-A	brain
44	chr4:99503000-99503400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:99503000-99503400	Weak transcription	Gastric	stomach
46	chr4:99503000-99503600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:99503000-99503600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:99503000-99505200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:99503000-99507200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:99503200-99503400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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