Variant report

Variant	rs42353
Chromosome Location	chr5:9187035-9187036
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	chr5:9180289..9182689-chr5:9184883..9187341,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2428653	0.81[JPT][hapmap]
rs40693	0.81[JPT][hapmap]
rs40697	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs40720	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1015378	chr5:9053542-9617963	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS 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 miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv537640	chr5:9053542-9617963	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
9	nsv830200	chr5:9081023-9269495	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv597070	chr5:9100211-9280338	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1020815	chr5:9135207-9425649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv498044	chr5:9143754-9402870	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv530183	chr5:9146506-9413373	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9136800-9189000	Weak transcription	Pancreas	Pancrea
2	chr5:9145600-9235400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:9154000-9226200	Weak transcription	Fetal Intestine Large	intestine
4	chr5:9163800-9189200	Weak transcription	Fetal Heart	heart
5	chr5:9169800-9202800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:9171000-9192000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:9174800-9188600	Weak transcription	Right Ventricle	heart
8	chr5:9175400-9208400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:9175600-9187600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:9175600-9187800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:9175600-9188000	Weak transcription	Osteobl	bone
12	chr5:9175600-9227400	Weak transcription	Colonic Mucosa	Colon
13	chr5:9176000-9187600	Weak transcription	NHDF-Ad	bronchial
14	chr5:9176400-9196400	Weak transcription	Ovary	ovary
15	chr5:9177000-9187800	Weak transcription	NHLF	lung
16	chr5:9177400-9189200	Weak transcription	Aorta	Aorta
17	chr5:9177800-9187800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:9177800-9189000	Weak transcription	Liver	Liver
19	chr5:9178000-9187800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:9178000-9189800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:9178200-9188600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:9183400-9191400	Weak transcription	Brain Angular Gyrus	brain
23	chr5:9183800-9188600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:9183800-9188600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:9183800-9189000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:9183800-9189000	Weak transcription	Fetal Intestine Small	intestine
27	chr5:9183800-9189000	Weak transcription	Fetal Stomach	stomach
28	chr5:9183800-9190200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:9183800-9190400	Weak transcription	Esophagus	oesophagus
30	chr5:9184000-9187800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:9184000-9188000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:9184000-9188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:9184000-9188600	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:9184000-9189000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:9184000-9191400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:9184600-9194800	Weak transcription	Fetal Kidney	kidney
37	chr5:9185000-9194600	Weak transcription	Fetal Lung	lung
38	chr5:9185200-9188600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:9185200-9189000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:9185200-9191600	Weak transcription	Gastric	stomach
41	chr5:9185400-9264600	Weak transcription	Left Ventricle	heart
42	chr5:9186400-9188200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:9186600-9188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:9186800-9187800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:9187000-9187600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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