Variant report

Variant	rs73778917
Chromosome Location	chr5:112419059-112419060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112418552..112420515-chr5:112429812..112432103,2	MCF-7	breast:
2	chr5:112372883..112375761-chr5:112416823..112419304,2	K562	blood:
3	chr5:112417847..112420032-chr5:112422512..112424237,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

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]
rs56096608	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]
rs73778912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778915	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:4 , 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	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
3	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
4	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
3	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:112391600-112439000	Weak transcription	Gastric	stomach
5	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:112399000-112432800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:112400800-112423800	Weak transcription	Aorta	Aorta
9	chr5:112402600-112425600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:112404000-112426000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:112404400-112428000	Weak transcription	Placenta	Placenta
12	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
13	chr5:112404800-112425400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:112409000-112419600	Weak transcription	Fetal Heart	heart
15	chr5:112411000-112431800	Weak transcription	Spleen	Spleen
16	chr5:112411200-112425800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:112411200-112443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:112411600-112425800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:112411800-112420400	Weak transcription	Pancreas	Pancrea
20	chr5:112411800-112428000	Weak transcription	Fetal Intestine Large	intestine
21	chr5:112412000-112435200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:112412200-112432400	Weak transcription	Fetal Intestine Small	intestine
23	chr5:112414200-112425600	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:112416200-112421000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:112416600-112420800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:112416600-112421000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:112416600-112421000	Strong transcription	Ovary	ovary
28	chr5:112416600-112421000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr5:112416600-112421200	Strong transcription	Fetal Muscle Leg	muscle
30	chr5:112416600-112422600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:112416600-112422800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:112417000-112419400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:112417000-112420800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr5:112417400-112420400	Strong transcription	Fetal Lung	lung
35	chr5:112417400-112420600	Strong transcription	Fetal Stomach	stomach
36	chr5:112417400-112423400	Strong transcription	Esophagus	oesophagus
37	chr5:112417600-112419200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:112417600-112421000	Strong transcription	Adipose Nuclei	Adipose
39	chr5:112417800-112419200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:112417800-112421400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:112417800-112436800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:112418000-112419200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:112418000-112419200	Enhancers	Fetal Thymus	thymus
44	chr5:112418000-112419400	Enhancers	HSMMtube	muscle
45	chr5:112418000-112420800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:112418000-112421000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:112418000-112421000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:112418000-112421000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:112418200-112419400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:112418200-112419600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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