Variant report

Variant	rs7029814
Chromosome Location	chr9:94562681-94562682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94559930..94562957-chr9:94564256..94567376,4	K562	blood:
2	chr9:94554175..94556375-chr9:94562019..94564292,2	MCF-7	breast:
3	chr9:94561614..94563695-chr9:94575590..94578350,2	K562	blood:
4	chr9:94562652..94565421-chr9:94572696..94575201,2	K562	blood:
5	chr9:94560147..94563596-chr9:94565851..94569196,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4743855	0.82[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	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
7	nsv523940	chr9:94546564-94573753	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv518372	chr9:94558126-94605908	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7029814	SPTLC1	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94558400-94566400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:94558600-94565200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:94560800-94568000	Enhancers	Rectal Smooth Muscle	rectum
4	chr9:94561000-94563600	Enhancers	Fetal Stomach	stomach
5	chr9:94561000-94567600	Enhancers	Ovary	ovary
6	chr9:94561000-94567800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr9:94561200-94563600	Enhancers	Fetal Heart	heart
8	chr9:94561400-94562800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:94561400-94564600	Weak transcription	NHDF-Ad	bronchial
10	chr9:94561400-94567400	Enhancers	Fetal Lung	lung
11	chr9:94561600-94564600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:94561600-94564600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:94561600-94566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:94561800-94564600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:94561800-94566000	Weak transcription	Colonic Mucosa	Colon
16	chr9:94561800-94566600	Weak transcription	Spleen	Spleen
17	chr9:94562000-94563000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:94562000-94563200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:94562000-94563400	Enhancers	Right Atrium	heart
20	chr9:94562000-94563400	Enhancers	K562	blood
21	chr9:94562000-94565000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:94562000-94565400	Weak transcription	Fetal Intestine Small	intestine
23	chr9:94562000-94566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:94562000-94567400	Weak transcription	Esophagus	oesophagus
25	chr9:94562000-94575400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr9:94562000-94579400	Weak transcription	Gastric	stomach
27	chr9:94562200-94564000	Enhancers	Stomach Smooth Muscle	stomach
28	chr9:94562200-94564400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:94562200-94564600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr9:94562200-94564800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:94562200-94564800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:94562200-94564800	Enhancers	Colon Smooth Muscle	Colon
33	chr9:94562200-94565000	Weak transcription	Fetal Intestine Large	intestine
34	chr9:94562200-94567400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:94562400-94562800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr9:94562600-94563000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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