Variant report

Variant	rs114431930
Chromosome Location	chr9:117812626-117812627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117808226..117809818-chr9:117811512..117814202,2	K562	blood:
2	chr9:117810151..117812770-chr9:117815287..117818009,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3825	chr9:117811565-117813873	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3348053	chr9:117811714-117813899	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv3328677	chr9:117811761-117813687	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3358299	chr9:117811866-117813920	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv3518959	chr9:117811933-117813868	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv3518960	chr9:117811933-117813868	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
2	chr9:117791600-117833200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:117792800-117815000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:117799200-117819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:117799400-117817000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:117800800-117825000	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:117800800-117825200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:117801000-117819200	Weak transcription	HMEC	breast
9	chr9:117801800-117820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:117802200-117848200	Weak transcription	Spleen	Spleen
11	chr9:117803400-117820000	Weak transcription	Aorta	Aorta
12	chr9:117803400-117820600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:117803600-117820200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:117803600-117825400	Weak transcription	Fetal Kidney	kidney
15	chr9:117804600-117812800	Weak transcription	NHEK	skin
16	chr9:117805800-117818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:117806800-117816800	Strong transcription	Osteobl	bone
18	chr9:117807200-117816800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:117807400-117819600	Strong transcription	NHDF-Ad	bronchial
20	chr9:117807400-117819800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:117807600-117817400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:117807800-117813800	Strong transcription	NH-A	brain
23	chr9:117808600-117815000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:117809000-117825400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:117809200-117813800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:117809200-117821000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:117809400-117815000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:117809800-117815200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:117810000-117817600	Weak transcription	Fetal Stomach	stomach
30	chr9:117810200-117817600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:117810600-117825000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:117810800-117814400	Weak transcription	NHLF	lung
33	chr9:117811000-117816600	Weak transcription	Colon Smooth Muscle	Colon
34	chr9:117811400-117812800	Enhancers	Fetal Lung	lung
35	chr9:117811400-117813800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:117811800-117816800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr9:117812000-117812800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr9:117812000-117814200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:117812200-117812800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:117812400-117812800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr9:117812400-117813000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:117812400-117813200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr9:117812400-117813200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr9:117812400-117813600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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