Variant report

Variant	rs396231
Chromosome Location	chr5:81012751-81012752
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	chr5:81012199..81014802-chr5:81035367..81038326,2	K562	blood:
2	chr5:81011299..81014307-chr5:81021484..81024524,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1023747	0.84[TSI][hapmap]
rs11957810	0.80[TSI][hapmap]
rs13159526	0.82[CHB][hapmap]
rs1347597	0.85[CHB][hapmap]
rs2043646	0.81[CEU][hapmap]
rs2917540	0.82[CHB][hapmap]
rs2972235	0.82[CHB][hapmap]
rs2972236	0.82[CHB][hapmap]
rs2972243	0.82[CHB][hapmap]
rs2973340	0.82[CHB][hapmap]
rs2973349	0.82[CHB][hapmap]
rs371705	1.00[ASW][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap]
rs374479	0.85[CHB][hapmap]
rs380946	0.82[TSI][hapmap]
rs385716	0.84[TSI][hapmap]
rs393766	0.84[GIH][hapmap];0.84[MEX][hapmap]
rs398666	1.00[ASW][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap]
rs402352	0.84[CHB][hapmap];0.86[AMR][1000 genomes]
rs403777	0.84[CHB][hapmap]
rs406292	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs411840	0.80[MEX][hapmap]
rs418033	0.85[CHB][hapmap]
rs419017	0.80[CEU][hapmap];0.84[TSI][hapmap]
rs420202	0.85[CHB][hapmap]
rs420412	0.85[CHB][hapmap]
rs421348	0.85[CHB][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap]
rs422523	0.91[GIH][hapmap];0.91[MEX][hapmap]
rs432617	0.83[AMR][1000 genomes]
rs437417	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs446064	0.85[CHB][hapmap];0.86[GIH][hapmap];0.91[TSI][hapmap]
rs452314	0.84[CHB][hapmap]
rs453068	0.84[TSI][hapmap]
rs454487	0.81[CEU][hapmap]
rs4607338	0.82[CHB][hapmap]
rs585558	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs827065	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs863772	0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
2	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80996000-81014000	Weak transcription	Fetal Stomach	stomach
4	chr5:80996600-81013600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:80996800-81013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:80996800-81014000	Weak transcription	Fetal Lung	lung
7	chr5:80997000-81013000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:80997200-81013600	Weak transcription	Primary B cells from cord blood	blood
9	chr5:80997200-81013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:80999400-81013000	Weak transcription	Ovary	ovary
12	chr5:81000000-81014200	Weak transcription	Right Ventricle	heart
13	chr5:81000000-81014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
15	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:81000600-81013000	Weak transcription	Thymus	Thymus
17	chr5:81001200-81014200	Weak transcription	Brain Anterior Caudate	brain
18	chr5:81003400-81013200	Weak transcription	HSMM	muscle
19	chr5:81003800-81013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:81003800-81014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:81004000-81014000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
23	chr5:81005400-81014200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:81005400-81014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:81005400-81015000	Weak transcription	Brain Substantia Nigra	brain
26	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:81006000-81013600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
29	chr5:81006400-81013000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:81006600-81014200	Weak transcription	Brain Angular Gyrus	brain
31	chr5:81007400-81013800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:81008200-81016200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:81008400-81014200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:81008800-81014200	Weak transcription	Right Atrium	heart
35	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:81009200-81013600	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:81010000-81022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:81010800-81016000	Genic enhancers	Dnd41	blood
39	chr5:81011000-81014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:81011200-81013600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:81011400-81014200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:81011400-81015400	Weak transcription	Spleen	Spleen
43	chr5:81011600-81029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:81011800-81013000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:81011800-81014000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:81011800-81014200	Weak transcription	Gastric	stomach
47	chr5:81011800-81014200	Weak transcription	GM12878-XiMat	blood
48	chr5:81012000-81013000	Weak transcription	Fetal Thymus	thymus
49	chr5:81012000-81013000	Weak transcription	NHLF	lung
50	chr5:81012000-81014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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