Variant report

Variant	rs4486744
Chromosome Location	chr13:111076348-111076349
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	chr13:111074584..111076836-chr13:111085848..111088108,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4238272	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7984789	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9588157	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:111061000-111077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:111063800-111080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:111064200-111078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:111065000-111077000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:111065000-111077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:111065200-111077000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:111065200-111077400	Weak transcription	Fetal Kidney	kidney
9	chr13:111065200-111082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:111068000-111107000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:111068400-111088600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:111068600-111078000	Weak transcription	Pancreas	Pancrea
13	chr13:111068600-111082800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr13:111068600-111086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr13:111068800-111080800	Weak transcription	Fetal Intestine Large	intestine
16	chr13:111070200-111108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr13:111070400-111077000	Weak transcription	Ovary	ovary
18	chr13:111070400-111078600	Enhancers	HUVEC	blood vessel
19	chr13:111070400-111085400	Weak transcription	Psoas Muscle	Psoas
20	chr13:111070600-111083000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr13:111071000-111076600	Enhancers	Fetal Heart	heart
22	chr13:111071400-111078400	Enhancers	Placenta	Placenta
23	chr13:111071800-111076800	Genic enhancers	Adipose Nuclei	Adipose
24	chr13:111071800-111082400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:111072000-111076400	Enhancers	Right Atrium	heart
26	chr13:111072000-111077000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr13:111072000-111078600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:111072000-111085400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:111072200-111082800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:111072600-111077000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:111072600-111077800	Weak transcription	Fetal Intestine Small	intestine
32	chr13:111073200-111077000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:111073200-111078200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:111073400-111076400	Enhancers	Stomach Smooth Muscle	stomach
35	chr13:111073400-111082800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr13:111073800-111076400	Enhancers	Osteobl	bone
37	chr13:111073800-111077200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr13:111073800-111077800	Weak transcription	A549	lung
39	chr13:111073800-111078000	Weak transcription	Fetal Lung	lung
40	chr13:111074000-111077200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr13:111074000-111083000	Weak transcription	Spleen	Spleen
42	chr13:111074200-111083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:111074800-111076400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:111074800-111077400	Enhancers	Aorta	Aorta
45	chr13:111074800-111078400	Genic enhancers	Fetal Muscle Leg	muscle
46	chr13:111075200-111076600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:111075200-111077000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:111075200-111077000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:111075200-111077000	Weak transcription	Left Ventricle	heart
50	chr13:111075400-111076400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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