Variant report

Variant	rs3922410
Chromosome Location	chr5:112396174-112396175
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	chr5:112395182..112396947-chr5:112408525..112410110,2	MCF-7	breast:
2	chr5:112393898..112396478-chr5:112407663..112409529,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10054002	0.87[ASW][hapmap]
rs10054040	0.89[ASW][hapmap]
rs10054341	1.00[CEU][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064483	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10064486	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3891987	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4235786	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4293906	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4337846	0.89[ASW][hapmap]
rs4361505	0.89[ASW][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.83[MKK][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs4457065	1.00[CHD][hapmap]
rs6896675	0.87[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv516887	chr5:112379659-112396174	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032798	chr5:112392380-112408177	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
3	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112370600-112396600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:112372800-112396800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:112373000-112398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:112373200-112399000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:112375000-112402600	Weak transcription	Pancreas	Pancrea
11	chr5:112379600-112399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
13	chr5:112383200-112409400	Strong transcription	Liver	Liver
14	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:112384600-112398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:112384600-112398800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:112384800-112399000	Weak transcription	Aorta	Aorta
19	chr5:112386000-112397200	Weak transcription	Fetal Heart	heart
20	chr5:112388400-112398800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:112388600-112397000	Weak transcription	NHLF	lung
22	chr5:112388600-112397200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:112388800-112402400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:112390000-112397800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:112390600-112402400	Weak transcription	Spleen	Spleen
26	chr5:112390800-112410800	Weak transcription	Fetal Intestine Small	intestine
27	chr5:112391200-112398400	Weak transcription	Right Ventricle	heart
28	chr5:112391600-112439000	Weak transcription	Gastric	stomach
29	chr5:112392600-112397600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:112392800-112399000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:112393000-112396200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:112393000-112397000	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr5:112393600-112400200	Weak transcription	Placenta	Placenta
34	chr5:112394000-112398000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr5:112394000-112399200	Weak transcription	Ovary	ovary
36	chr5:112394000-112399400	Enhancers	Fetal Thymus	thymus
37	chr5:112394200-112397000	Strong transcription	HMEC	breast
38	chr5:112394200-112397400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:112394200-112397800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:112394400-112397600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr5:112394400-112397600	Enhancers	NH-A	brain
42	chr5:112394600-112396400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:112394600-112397200	Enhancers	HSMMtube	muscle
44	chr5:112394600-112397400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:112394600-112397600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:112394600-112399000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:112394800-112396400	Weak transcription	NHEK	skin
48	chr5:112394800-112396800	Enhancers	Fetal Stomach	stomach
49	chr5:112394800-112397400	Enhancers	Osteobl	bone
50	chr5:112394800-112397800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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