Variant report

Variant	rs1409177
Chromosome Location	chr13:94997242-94997243
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:94996444..94998993-chr13:95005102..95008058,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12584506	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes]
rs1535693	0.93[GIH][hapmap]
rs17175273	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17175280	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.90[EUR][1000 genomes]
rs17253843	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17253850	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[EUR][1000 genomes]
rs4143992	0.93[GIH][hapmap]
rs72632655	0.90[EUR][1000 genomes]
rs72632656	0.90[EUR][1000 genomes]
rs72632657	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72632658	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9524450	0.96[GIH][hapmap]
rs9589962	0.81[LWK][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	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv456077	chr13:94993032-95051560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv562755	chr13:94993032-95051560	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94980400-95000600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94988200-94998000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:94990000-95003600	Weak transcription	Fetal Intestine Small	intestine
4	chr13:94994200-94998400	Enhancers	Fetal Stomach	stomach
5	chr13:94994600-94998200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:94994800-94997800	Enhancers	Liver	Liver
7	chr13:94994800-94998200	Enhancers	HSMM	muscle
8	chr13:94994800-94998200	Enhancers	HSMMtube	muscle
9	chr13:94995000-94998400	Enhancers	NHDF-Ad	bronchial
10	chr13:94995200-95004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:94995600-94998400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:94996000-94997800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:94996000-94998000	Enhancers	NH-A	brain
14	chr13:94996000-95000800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:94996200-94998000	Enhancers	HepG2	liver
16	chr13:94996400-94997600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:94996400-94997800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:94996400-94998000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr13:94996400-94998200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr13:94996600-94998000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:94996600-94998400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:94996600-94998400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:94996800-94997800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:94996800-94998200	Enhancers	HMEC	breast
25	chr13:94997000-94997800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:94997000-94997800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr13:94997000-94997800	Weak transcription	Adipose Nuclei	Adipose
28	chr13:94997000-94997800	Enhancers	Colon Smooth Muscle	Colon
29	chr13:94997000-94997800	Enhancers	Fetal Kidney	kidney
30	chr13:94997000-94997800	Weak transcription	Fetal Thymus	thymus
31	chr13:94997000-94997800	Enhancers	Osteobl	bone
32	chr13:94997000-94998000	Enhancers	Rectal Smooth Muscle	rectum
33	chr13:94997000-94998200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr13:94997000-94998200	Enhancers	Fetal Heart	heart
35	chr13:94997000-94998400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr13:94997000-94998400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr13:94997000-94998400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:94997000-95000600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:94997000-95002800	Weak transcription	Aorta	Aorta
40	chr13:94997000-95003000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:94997000-95003200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:94997000-95034400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr13:94997200-94997600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr13:94997200-94997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:94997200-94997600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:94997200-94997600	Weak transcription	Fetal Muscle Leg	muscle
47	chr13:94997200-94997600	Weak transcription	Ovary	ovary
48	chr13:94997200-94998200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr13:94997200-94998200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr13:94997200-94998400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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