Variant report

Variant	rs4467996
Chromosome Location	chr9:94517715-94517716
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94515164..94517727-chr9:94525396..94527024,2	K562	blood:
2	chr9:94516080..94518691-chr9:94519626..94521518,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3935601	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs4595185	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7031729	0.85[CEU][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs7047937	0.87[AFR][1000 genomes]
rs7869182	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv6612	chr9:94490644-94535738	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94477200-94533000	Weak transcription	Fetal Kidney	kidney
2	chr9:94483600-94519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:94486200-94521000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:94487000-94535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:94490400-94521000	Weak transcription	Right Atrium	heart
6	chr9:94499800-94520400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr9:94499800-94522800	Weak transcription	Gastric	stomach
8	chr9:94499800-94523200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:94506200-94523600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:94509800-94521400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:94513200-94518400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:94513400-94520400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:94513400-94521000	Weak transcription	Spleen	Spleen
14	chr9:94514200-94519200	Weak transcription	NHLF	lung
15	chr9:94514600-94523600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:94514800-94517800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:94514800-94527800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:94515000-94518000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:94515000-94518000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:94515000-94518400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:94515800-94518200	Strong transcription	Fetal Lung	lung
22	chr9:94515800-94518600	Strong transcription	K562	blood
23	chr9:94515800-94519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:94515800-94519800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:94515800-94522200	Strong transcription	Fetal Stomach	stomach
26	chr9:94516000-94520200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:94516600-94517800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr9:94516600-94519800	Strong transcription	Fetal Intestine Small	intestine
29	chr9:94516800-94518600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr9:94517000-94518000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:94517000-94519000	Strong transcription	Fetal Intestine Large	intestine
32	chr9:94517200-94517800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:94517200-94519000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:94517200-94519000	Strong transcription	Ovary	ovary
35	chr9:94517200-94519400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:94517200-94519400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:94517200-94520800	Weak transcription	Fetal Heart	heart
38	chr9:94517400-94517800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:94517400-94518000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:94517400-94518400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:94517400-94518800	Strong transcription	Colon Smooth Muscle	Colon

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