Variant report

Variant	rs2274407
Chromosome Location	chr13:95859035-95859036
allele	A/C/G/T
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	chr13:95858760-95859132	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95858681..95860676-chr13:95871438..95873483,2	K562	blood:

Variant related genes	Relation type
ENSG00000238463	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10162199	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs4148477	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4148478	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4148479	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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:87 , 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	chr13:95833800-95859800	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:95834000-95865400	Weak transcription	Psoas Muscle	Psoas
5	chr13:95838200-95867400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:95839400-95863800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:95840400-95874400	Weak transcription	Pancreas	Pancrea
8	chr13:95842000-95864800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:95842000-95869000	Weak transcription	Fetal Kidney	kidney
10	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
11	chr13:95844400-95864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:95844400-95865600	Weak transcription	Spleen	Spleen
13	chr13:95844400-95867600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:95844600-95863600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:95846000-95871400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:95846200-95859400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:95846200-95872400	Weak transcription	Brain Anterior Caudate	brain
18	chr13:95847800-95860200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr13:95847800-95868200	Weak transcription	Fetal Lung	lung
20	chr13:95847800-95880400	Weak transcription	Ovary	ovary
21	chr13:95848400-95861600	Weak transcription	HSMMtube	muscle
22	chr13:95850800-95867600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:95852800-95862200	Weak transcription	Right Ventricle	heart
24	chr13:95853800-95859800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:95853800-95863400	Weak transcription	Adipose Nuclei	Adipose
26	chr13:95855000-95863000	Strong transcription	Fetal Intestine Small	intestine
27	chr13:95855200-95862200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:95855400-95863400	Weak transcription	Osteobl	bone
29	chr13:95855400-95867400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:95855600-95861800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:95855800-95862000	Strong transcription	NHLF	lung
32	chr13:95856000-95859200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr13:95856000-95859600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr13:95856000-95859800	Strong transcription	GM12878-XiMat	blood
35	chr13:95856000-95863000	Strong transcription	A549	lung
36	chr13:95856000-95864400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:95856400-95859600	Strong transcription	K562	blood
38	chr13:95856400-95865400	Weak transcription	Left Ventricle	heart
39	chr13:95856400-95872600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr13:95856400-95898200	Weak transcription	NHEK	skin
41	chr13:95856800-95859200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr13:95857000-95859200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:95857000-95860200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:95857200-95859200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr13:95857200-95860600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr13:95857400-95865400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr13:95857600-95861400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr13:95857800-95859200	Strong transcription	Primary T cells from cord blood	blood
49	chr13:95857800-95859200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr13:95857800-95859200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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