Variant report

Variant	rs899494
Chromosome Location	chr13:95861804-95861805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:95861604-95861819	K562	blood:	n/a	n/a
2	POLR2A	chr13:95861390-95862300	K562	blood:	n/a	n/a
3	TEAD4	chr13:95861368-95861831	K562	blood:	n/a	n/a
4	GATA1	chr13:95861318-95861883	PBDE	blood:	n/a	n/a
5	JUND	chr13:95861457-95861870	K562	blood:	n/a	n/a
6	TAL1	chr13:95861318-95861805	K562	blood:	n/a	n/a
7	EP300	chr13:95861411-95861807	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95860458..95862000-chr13:95922105..95923828,2	K562	blood:

Variant related genes	Relation type
ENSG00000238463	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1617844	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1678377	0.84[ASN][1000 genomes]
rs1678403	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17300865	0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap]
rs1751014	0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[ASN][1000 genomes]
rs1751029	0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1824911	1.00[CEU][hapmap]
rs1824913	1.00[CEU][hapmap]
rs1926657	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs2148529	0.82[GIH][hapmap];0.86[TSI][hapmap]
rs3782965	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4148464	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4148465	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4148469	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4303338	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4334136	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4505186	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4612933	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4636781	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4773847	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4773854	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs4773855	1.00[CEU][hapmap]
rs4773857	1.00[CEU][hapmap]
rs6492769	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs7325019	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs7329432	1.00[CEU][hapmap]
rs7333234	0.85[CEU][hapmap]
rs7335147	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs7983336	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs7987653	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs7988494	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs899496	0.92[CEU][hapmap];0.80[GIH][hapmap]
rs899497	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs9516545	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs9524831	1.00[CEU][hapmap]
rs9524833	1.00[CEU][hapmap];0.81[GIH][hapmap]
rs9524845	1.00[CEU][hapmap]
rs9524856	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
2	chr13:95827400-95872400	Weak transcription	NH-A	brain
3	chr13:95834000-95865400	Weak transcription	Psoas Muscle	Psoas
4	chr13:95838200-95867400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr13:95839400-95863800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:95840400-95874400	Weak transcription	Pancreas	Pancrea
7	chr13:95842000-95864800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr13:95842000-95869000	Weak transcription	Fetal Kidney	kidney
9	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
10	chr13:95844400-95864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:95844400-95865600	Weak transcription	Spleen	Spleen
12	chr13:95844400-95867600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr13:95844600-95863600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:95846000-95871400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:95846200-95872400	Weak transcription	Brain Anterior Caudate	brain
16	chr13:95847800-95868200	Weak transcription	Fetal Lung	lung
17	chr13:95847800-95880400	Weak transcription	Ovary	ovary
18	chr13:95850800-95867600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:95852800-95862200	Weak transcription	Right Ventricle	heart
20	chr13:95853800-95863400	Weak transcription	Adipose Nuclei	Adipose
21	chr13:95855000-95863000	Strong transcription	Fetal Intestine Small	intestine
22	chr13:95855200-95862200	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr13:95855400-95863400	Weak transcription	Osteobl	bone
24	chr13:95855400-95867400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:95855800-95862000	Strong transcription	NHLF	lung
26	chr13:95856000-95863000	Strong transcription	A549	lung
27	chr13:95856000-95864400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:95856400-95865400	Weak transcription	Left Ventricle	heart
29	chr13:95856400-95872600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:95856400-95898200	Weak transcription	NHEK	skin
31	chr13:95857400-95865400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr13:95857800-95863000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:95858200-95865600	Weak transcription	Small Intestine	intestine
34	chr13:95858600-95865600	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:95858600-95880400	Weak transcription	Fetal Thymus	thymus
36	chr13:95858800-95866200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:95859000-95863400	Weak transcription	HepG2	liver
38	chr13:95859000-95865400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:95859000-95865400	Weak transcription	HUVEC	blood vessel
40	chr13:95859000-95866400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:95859000-95874800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr13:95859000-95878800	Weak transcription	Esophagus	oesophagus
43	chr13:95859000-95879000	Weak transcription	Gastric	stomach
44	chr13:95859000-95885800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:95859000-95887800	Weak transcription	HSMM	muscle
46	chr13:95859000-95901000	Weak transcription	Aorta	Aorta
47	chr13:95859200-95863200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr13:95859200-95863800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr13:95859200-95880000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:95859200-95901400	Weak transcription	Primary T cells from cord blood	blood

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