Variant report

Variant	rs7996584
Chromosome Location	chr13:95721672-95721673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95719815..95721842-chr13:95722813..95724481,2	K562	blood:

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

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

rs_ID	r²[population]
rs11568690	0.86[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12875609	0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs16950515	0.84[LWK][hapmap]
rs16950526	0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16950531	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]
rs16950533	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]
rs16950584	0.86[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1751033	1.00[YRI][hapmap]
rs7324065	0.84[LWK][hapmap]
rs7324602	0.84[LWK][hapmap]
rs7997756	0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs931112	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]

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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95655600-95722600	Weak transcription	Gastric	stomach
2	chr13:95669400-95723200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:95669600-95744000	Weak transcription	Small Intestine	intestine
4	chr13:95671400-95722200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:95672800-95729000	Weak transcription	Colonic Mucosa	Colon
6	chr13:95676000-95740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:95682800-95721800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:95683200-95751800	Weak transcription	Fetal Lung	lung
9	chr13:95683800-95725800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr13:95684400-95728200	Weak transcription	Adipose Nuclei	Adipose
11	chr13:95684600-95725400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:95685200-95734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr13:95686800-95722600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:95686800-95744600	Weak transcription	Esophagus	oesophagus
15	chr13:95687000-95722600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:95691200-95722400	Weak transcription	Fetal Stomach	stomach
17	chr13:95692000-95722400	Weak transcription	Spleen	Spleen
18	chr13:95692200-95722800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr13:95692600-95725600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr13:95692800-95735800	Weak transcription	NHEK	skin
21	chr13:95693800-95722600	Weak transcription	Fetal Intestine Large	intestine
22	chr13:95694800-95721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:95694800-95725600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr13:95695000-95722000	Weak transcription	Lung	lung
25	chr13:95695000-95722200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr13:95695600-95723800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:95696000-95726200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr13:95702400-95735200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr13:95709200-95728000	Weak transcription	HSMMtube	muscle
30	chr13:95710000-95723600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:95710200-95727400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:95710400-95741200	Weak transcription	Right Ventricle	heart
33	chr13:95711800-95724600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr13:95712200-95723400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr13:95713000-95727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:95713200-95722000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr13:95713400-95723600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr13:95713400-95725000	Weak transcription	Placenta	Placenta
39	chr13:95715000-95721800	Weak transcription	K562	blood
40	chr13:95716600-95725800	Weak transcription	NHDF-Ad	bronchial
41	chr13:95716800-95727000	Weak transcription	Fetal Thymus	thymus
42	chr13:95717200-95726200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr13:95717600-95722800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr13:95717600-95727600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr13:95717800-95724200	Strong transcription	A549	lung
46	chr13:95718000-95741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr13:95718200-95721800	Weak transcription	Colon Smooth Muscle	Colon
48	chr13:95718200-95728600	Strong transcription	GM12878-XiMat	blood
49	chr13:95718400-95724800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr13:95718800-95728200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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