Variant report

Variant	rs7988493
Chromosome Location	chr13:110964646-110964647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2100005	1.00[YRI][hapmap]
rs7983561	0.93[AFR][1000 genomes];0.87[EUR][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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523051	chr13:110951315-110966349	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110960400-110965200	Weak transcription	Hela-S3	cervix
2	chr13:110961200-110964800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
3	chr13:110961200-110965600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
4	chr13:110961400-110971400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:110961600-110965200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:110961600-110965600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:110961600-110969200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:110961600-110969200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:110961800-110968600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:110961800-110968600	Weak transcription	Gastric	stomach
11	chr13:110962000-110965600	Genic enhancers	NHEK	skin
12	chr13:110962000-110968800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:110962000-110969000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:110962000-110969400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:110962000-110971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:110962000-110971400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:110962000-110972200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:110962000-110972800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:110962000-110978600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr13:110962200-110965600	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr13:110962200-110965600	Genic enhancers	Fetal Intestine Small	intestine
22	chr13:110962400-110965400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:110962600-110968200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:110962600-110989200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr13:110963000-110967600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:110963200-110964800	Transcr. at gene 5' and 3'	NHLF	lung
27	chr13:110963200-110965000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:110963200-110965000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr13:110963600-110972000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr13:110963800-110965600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr13:110963800-110965600	Genic enhancers	HUVEC	blood vessel
32	chr13:110963800-110966800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr13:110963800-110968800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:110964000-110965200	Flanking Active TSS	NH-A	brain
35	chr13:110964000-110965400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:110964000-110965400	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr13:110964000-110965400	Enhancers	Pancreas	Pancrea
38	chr13:110964000-110967000	Weak transcription	Spleen	Spleen
39	chr13:110964000-110969000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr13:110964000-110969000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr13:110964000-110969000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr13:110964200-110964800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr13:110964200-110964800	Flanking Active TSS	Fetal Heart	heart
44	chr13:110964200-110964800	Flanking Active TSS	HSMMtube	muscle
45	chr13:110964200-110965200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:110964200-110965200	Enhancers	HSMM	muscle
47	chr13:110964200-110965600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:110964200-110965600	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr13:110964200-110969400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr13:110964400-110964800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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