Variant report

Variant	rs2989514
Chromosome Location	chr9:117854921-117854922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:117853634-117857758	U87	brain:	n/a	n/a
2	POLR2A	chr9:117851943-117857764	U87	brain:	n/a	n/a

Variant related genes	Relation type
TNC	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1250017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1250020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1250025	1.00[AMR][1000 genomes]
rs1755635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1755642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1757113	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1757114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2988579	1.00[AMR][1000 genomes]
rs2989517	1.00[AMR][1000 genomes]
rs73656707	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893768	chr9:117853103-117903975	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117815400-117859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:117827200-117855200	Strong transcription	NH-A	brain
3	chr9:117841200-117860600	Weak transcription	Fetal Kidney	kidney
4	chr9:117842800-117855200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:117847200-117856000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:117849000-117856400	Weak transcription	Brain Substantia Nigra	brain
7	chr9:117849400-117855400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:117849400-117855600	Weak transcription	Fetal Lung	lung
9	chr9:117849400-117856200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:117849400-117856800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:117849400-117876200	Weak transcription	Aorta	Aorta
12	chr9:117849400-117877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:117849600-117856400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:117849600-117857000	Weak transcription	Spleen	Spleen
15	chr9:117849600-117864600	Weak transcription	HMEC	breast
16	chr9:117849800-117860400	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:117849800-117860600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:117850800-117857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:117851200-117867200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:117851600-117855600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:117851800-117855200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:117852400-117855400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:117852400-117857000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:117853200-117855200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:117853200-117855600	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:117853200-117855800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:117853200-117856600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:117853400-117855000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:117853400-117855800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:117853400-117857000	Weak transcription	NHLF	lung
31	chr9:117853400-117857200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:117853400-117857200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:117853400-117858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:117853400-117861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:117853400-117874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:117854000-117860600	Weak transcription	NHDF-Ad	bronchial
37	chr9:117854200-117856000	Weak transcription	Fetal Stomach	stomach
38	chr9:117854400-117856000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:117854400-117860600	Weak transcription	Osteobl	bone
40	chr9:117854600-117855200	Weak transcription	NHEK	skin
41	chr9:117854600-117855400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:117854600-117856000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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