Variant report

Variant	rs9942403
Chromosome Location	chr5:93347691-93347692
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	chr5:93347102..93348867-chr5:93350111..93352553,2	K562	blood:

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

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

rs_ID	r²[population]
rs10053405	0.82[YRI][hapmap]
rs10054903	0.82[YRI][hapmap]
rs10055340	0.82[YRI][hapmap]
rs10064368	0.82[YRI][hapmap]
rs10078941	0.82[YRI][hapmap]
rs10079708	0.82[YRI][hapmap]
rs12108870	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12109217	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12109988	0.90[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7734897	0.82[YRI][hapmap]
rs7736620	0.82[YRI][hapmap]

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	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv882384	chr5:93136661-93380123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93297400-93349600	Weak transcription	Aorta	Aorta
2	chr5:93327000-93394600	Weak transcription	Small Intestine	intestine
3	chr5:93329200-93357000	Weak transcription	HSMM	muscle
4	chr5:93331000-93353000	Weak transcription	Fetal Thymus	thymus
5	chr5:93331600-93357200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:93335200-93348200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:93337000-93348200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:93337800-93348200	Weak transcription	Fetal Lung	lung
9	chr5:93337800-93350800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:93338200-93348200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:93338200-93350600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr5:93341000-93348200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:93341200-93348000	Weak transcription	Fetal Intestine Small	intestine
14	chr5:93341200-93357400	Weak transcription	Fetal Stomach	stomach
15	chr5:93341600-93348200	Weak transcription	Dnd41	blood
16	chr5:93341600-93350800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:93341800-93348200	Weak transcription	Brain Angular Gyrus	brain
18	chr5:93342200-93348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:93345000-93395200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:93345200-93350800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:93345400-93348200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:93345400-93352400	Weak transcription	Ovary	ovary
23	chr5:93345800-93348200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:93345800-93351400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:93345800-93351800	Weak transcription	Liver	Liver
26	chr5:93346400-93350600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:93346400-93351600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:93346600-93348800	Strong transcription	Fetal Intestine Large	intestine
29	chr5:93346600-93350400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr5:93346600-93350600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:93346600-93356800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:93346600-93365800	Weak transcription	Left Ventricle	heart
33	chr5:93346600-93376400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:93346800-93348400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:93346800-93349600	Strong transcription	Primary T cells from cord blood	blood
36	chr5:93346800-93349600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:93346800-93349600	Weak transcription	Lung	lung
38	chr5:93347000-93347800	Weak transcription	Primary B cells from cord blood	blood
39	chr5:93347000-93349800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:93347000-93356800	Weak transcription	NHDF-Ad	bronchial
41	chr5:93347000-93357000	Weak transcription	Pancreas	Pancrea
42	chr5:93347000-93357200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:93347000-93380000	Weak transcription	Thymus	Thymus
44	chr5:93347200-93348200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:93347200-93348400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:93347200-93351600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:93347400-93348400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:93347400-93354000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:93347400-93354600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:93347400-93357200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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