Variant report

Variant	rs480831
Chromosome Location	chr13:110831534-110831535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110826571..110829024-chr13:110829639..110833128,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs592634	1.00[CEU][hapmap]
rs630968	1.00[CEU][hapmap]
rs640112	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs641626	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs677858	0.80[MKK][hapmap];0.85[YRI][hapmap]
rs682491	1.00[CEU][hapmap]
rs682881	0.80[YRI][hapmap]
rs9588146	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1045170	chr13:110815422-110836716	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv456116	chr13:110818598-110856153	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv563101	chr13:110818598-110856153	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1182	chr13:110829691-110875029	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
2	chr13:110798800-110853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:110799600-110840200	Strong transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:110800200-110837800	Strong transcription	NH-A	brain
5	chr13:110800600-110834200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:110802400-110842800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:110803000-110834200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:110803000-110840400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:110803200-110839800	Weak transcription	NHDF-Ad	bronchial
10	chr13:110803200-110839800	Strong transcription	Osteobl	bone
11	chr13:110803600-110840000	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr13:110806600-110860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr13:110809200-110840000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:110810200-110866400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr13:110811000-110840200	Strong transcription	HUVEC	blood vessel
16	chr13:110811800-110838800	Strong transcription	Right Ventricle	heart
17	chr13:110812000-110838800	Strong transcription	Left Ventricle	heart
18	chr13:110816200-110840400	Strong transcription	Adipose Nuclei	Adipose
19	chr13:110820600-110832200	Strong transcription	HSMMtube	muscle
20	chr13:110821000-110839400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:110822000-110839800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:110822200-110840000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:110822200-110840200	Strong transcription	Colon Smooth Muscle	Colon
24	chr13:110822600-110831800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr13:110822600-110832000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:110822800-110837800	Strong transcription	HSMM	muscle
27	chr13:110823000-110831800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr13:110823000-110837000	Strong transcription	Rectal Smooth Muscle	rectum
29	chr13:110823000-110840000	Strong transcription	Fetal Lung	lung
30	chr13:110824400-110831600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr13:110824600-110835800	Strong transcription	Placenta	Placenta
32	chr13:110824600-110836200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr13:110826200-110832000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:110826200-110836000	Weak transcription	Fetal Heart	heart
35	chr13:110826400-110836200	Weak transcription	Esophagus	oesophagus
36	chr13:110826400-110839400	Weak transcription	Brain Substantia Nigra	brain
37	chr13:110826400-110839600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:110826400-110868200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr13:110826600-110834200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr13:110826600-110834400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:110826600-110835600	Strong transcription	Fetal Muscle Leg	muscle
42	chr13:110826600-110836000	Weak transcription	Brain Germinal Matrix	brain
43	chr13:110826600-110858600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr13:110826600-110866200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:110826800-110836200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr13:110826800-110836600	Strong transcription	Ovary	ovary
47	chr13:110826800-110838800	Strong transcription	Spleen	Spleen
48	chr13:110826800-110847200	Strong transcription	Aorta	Aorta
49	chr13:110826800-110868000	Weak transcription	Brain Anterior Caudate	brain
50	chr13:110827000-110831800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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