Variant report

Variant	rs73778912
Chromosome Location	chr5:112404750-112404751
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	chr5:112402187..112405327-chr5:112405857..112410029,4	K562	blood:
2	chr5:112403827..112406035-chr5:112407847..112410916,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10067575	1.00[AMR][1000 genomes]
rs1345079	1.00[AMR][1000 genomes]
rs1443688	1.00[AMR][1000 genomes]
rs1443697	1.00[AMR][1000 genomes]
rs1443698	1.00[AMR][1000 genomes]
rs1584057	1.00[AMR][1000 genomes]
rs1867326	1.00[AMR][1000 genomes]
rs1982287	1.00[AMR][1000 genomes]
rs2416308	1.00[AMR][1000 genomes]
rs2900068	1.00[AMR][1000 genomes]
rs2900069	1.00[AMR][1000 genomes]
rs4235795	1.00[AMR][1000 genomes]
rs60422435	1.00[AMR][1000 genomes]
rs6862997	1.00[AMR][1000 genomes]
rs6892018	1.00[AMR][1000 genomes]
rs73237148	1.00[AMR][1000 genomes]
rs73239119	1.00[AMR][1000 genomes]
rs73239122	1.00[AMR][1000 genomes]
rs73239127	1.00[AMR][1000 genomes]
rs73239158	1.00[AMR][1000 genomes]
rs73244727	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244751	1.00[AMR][1000 genomes]
rs73778907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778920	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778923	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781500	1.00[AMR][1000 genomes]
rs73783203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789281	1.00[AMR][1000 genomes]
rs935164	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
2	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
6	chr5:112383200-112409400	Strong transcription	Liver	Liver
7	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:112390800-112410800	Weak transcription	Fetal Intestine Small	intestine
10	chr5:112391600-112439000	Weak transcription	Gastric	stomach
11	chr5:112395000-112411600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:112395600-112417600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:112395800-112408600	Weak transcription	Brain Anterior Caudate	brain
15	chr5:112395800-112409000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:112396000-112417200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:112397400-112405000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:112398400-112407400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:112398600-112407000	Strong transcription	NHEK	skin
20	chr5:112398600-112409800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:112398800-112412400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:112399000-112405200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:112399000-112406000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:112399000-112406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:112399000-112432800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:112399200-112417600	Weak transcription	Fetal Kidney	kidney
27	chr5:112399600-112405800	Weak transcription	HUVEC	blood vessel
28	chr5:112399800-112405000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:112399800-112406200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:112399800-112408400	Weak transcription	Right Atrium	heart
31	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:112400000-112417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:112400200-112411400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:112400200-112416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:112400200-112416800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:112400400-112405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:112400400-112411200	Weak transcription	Thymus	Thymus
38	chr5:112400600-112405000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:112400800-112423800	Weak transcription	Aorta	Aorta
40	chr5:112401600-112405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:112401800-112405000	Weak transcription	HMEC	breast
42	chr5:112401800-112410600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:112402000-112404800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:112402000-112405200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:112402000-112405200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:112402000-112405600	Strong transcription	Adipose Nuclei	Adipose
47	chr5:112402000-112407000	Strong transcription	Esophagus	oesophagus
48	chr5:112402400-112408200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:112402600-112404800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:112402600-112405200	Strong transcription	Ovary	ovary

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