Variant report

Variant	rs16950531
Chromosome Location	chr13:95711855-95711856
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	chr13:95711720-95712086	K562	blood:	n/a	n/a

Variant related genes	Relation type
ABCC4	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11568690	0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12875609	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs16950515	0.84[LWK][hapmap]
rs16950526	0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16950533	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16950584	0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1751033	1.00[YRI][hapmap]
rs7324065	0.84[LWK][hapmap]
rs7324602	0.84[LWK][hapmap]
rs7996584	0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7997756	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs931112	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv832688	chr13:95633193-95780198	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv525194	chr13:95672950-95737192	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95655600-95722600	Weak transcription	Gastric	stomach
2	chr13:95668600-95712000	Weak transcription	NHDF-Ad	bronchial
3	chr13:95669400-95723200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr13:95669600-95744000	Weak transcription	Small Intestine	intestine
5	chr13:95671400-95722200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:95672800-95729000	Weak transcription	Colonic Mucosa	Colon
7	chr13:95676000-95740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:95677800-95718200	Weak transcription	HSMM	muscle
9	chr13:95682000-95718200	Weak transcription	Pancreas	Pancrea
10	chr13:95682800-95721800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:95683200-95751800	Weak transcription	Fetal Lung	lung
12	chr13:95683800-95725800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr13:95684400-95728200	Weak transcription	Adipose Nuclei	Adipose
14	chr13:95684600-95725400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:95685000-95721400	Weak transcription	Fetal Intestine Small	intestine
16	chr13:95685200-95734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:95686800-95722600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
19	chr13:95687000-95722600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr13:95691200-95722400	Weak transcription	Fetal Stomach	stomach
21	chr13:95692000-95722400	Weak transcription	Spleen	Spleen
22	chr13:95692200-95722800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr13:95692600-95721200	Weak transcription	Ovary	ovary
24	chr13:95692600-95725600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr13:95692800-95735800	Weak transcription	NHEK	skin
26	chr13:95693800-95722600	Weak transcription	Fetal Intestine Large	intestine
27	chr13:95694400-95718800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr13:95694600-95718000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:95694800-95721000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:95694800-95721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:95694800-95725600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr13:95695000-95713400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr13:95695000-95722000	Weak transcription	Lung	lung
34	chr13:95695000-95722200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr13:95695200-95718200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:95695200-95719000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr13:95695400-95713000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr13:95695600-95723800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:95695800-95721200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr13:95696000-95726200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr13:95696800-95713200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:95697000-95712400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr13:95697000-95714200	Weak transcription	K562	blood
44	chr13:95702400-95735200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr13:95702600-95718000	Weak transcription	Primary T cells from cord blood	blood
46	chr13:95706000-95719200	Weak transcription	HUVEC	blood vessel
47	chr13:95708800-95712000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:95709200-95712800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:95709200-95728000	Weak transcription	HSMMtube	muscle
50	chr13:95709600-95714600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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