Variant report

Variant	rs7988271
Chromosome Location	chr13:95809057-95809058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95640676..95641188-chr13:95808244..95809124,2	MCF-7	breast:
2	chr13:95807500..95810294-chr13:96058766..96060692,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1471481	1.00[ASN][1000 genomes]
rs1729743	0.84[AMR][1000 genomes]
rs2619313	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs3765534	0.85[CHB][hapmap];1.00[AMR][1000 genomes]
rs4148504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148511	0.85[GIH][hapmap];1.00[MEX][hapmap]
rs55773053	1.00[ASN][1000 genomes]
rs59383131	0.91[AMR][1000 genomes]
rs72643618	1.00[ASN][1000 genomes]
rs72643625	0.98[ASN][1000 genomes]
rs7993886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr13:95750400-95812400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:95750400-95815400	Weak transcription	Fetal Intestine Large	intestine
4	chr13:95752200-95823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:95756400-95828200	Weak transcription	HSMM	muscle
7	chr13:95757600-95814400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:95762200-95817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:95762400-95811800	Weak transcription	K562	blood
10	chr13:95768200-95819000	Weak transcription	Fetal Intestine Small	intestine
11	chr13:95774600-95815800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr13:95778800-95833400	Weak transcription	Spleen	Spleen
13	chr13:95782000-95828000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:95787800-95827200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr13:95789200-95812400	Weak transcription	Aorta	Aorta
16	chr13:95789200-95817600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:95790200-95812000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr13:95791000-95821400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr13:95792600-95809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:95792600-95811800	Weak transcription	Lung	lung
21	chr13:95792600-95813400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:95792600-95817000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr13:95792800-95810400	Weak transcription	NHLF	lung
24	chr13:95792800-95815800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:95793200-95809600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr13:95794200-95811600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:95798600-95810400	Weak transcription	GM12878-XiMat	blood
28	chr13:95799200-95833400	Weak transcription	HSMMtube	muscle
29	chr13:95799600-95812400	Weak transcription	Colon Smooth Muscle	Colon
30	chr13:95800400-95811800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr13:95802000-95810000	Enhancers	Stomach Mucosa	stomach
32	chr13:95802000-95811600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:95802000-95811600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:95804400-95811800	Weak transcription	Primary T cells from cord blood	blood
35	chr13:95806600-95817400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:95806800-95810400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:95806800-95817000	Weak transcription	Fetal Stomach	stomach
38	chr13:95806800-95826800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:95807000-95811800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:95807000-95811800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:95807000-95812600	Genic enhancers	A549	lung
42	chr13:95807000-95817000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:95807000-95817400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:95807000-95826800	Weak transcription	NH-A	brain
45	chr13:95807000-95846000	Weak transcription	Brain Substantia Nigra	brain
46	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
47	chr13:95807200-95820000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr13:95807200-95844400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
50	chr13:95807400-95812400	Weak transcription	Gastric	stomach

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