Variant report

Variant	rs4397122
Chromosome Location	chr5:112423993-112423994
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112417847..112420032-chr5:112422512..112424237,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12108764	1.00[AFR][1000 genomes]
rs4235782	0.83[AFR][1000 genomes]
rs4705540	1.00[AFR][1000 genomes]
rs4705771	1.00[AFR][1000 genomes]
rs6594681	1.00[AFR][1000 genomes]
rs6894711	0.83[AFR][1000 genomes]
rs6898395	1.00[AFR][1000 genomes]
rs7729027	1.00[AFR][1000 genomes]
rs7729055	1.00[AFR][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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
2	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:112391600-112439000	Weak transcription	Gastric	stomach
4	chr5:112399000-112432800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:112402600-112425600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:112404000-112426000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:112404400-112428000	Weak transcription	Placenta	Placenta
9	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
10	chr5:112404800-112425400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:112411000-112431800	Weak transcription	Spleen	Spleen
12	chr5:112411200-112425800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:112411200-112443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:112411600-112425800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr5:112411800-112428000	Weak transcription	Fetal Intestine Large	intestine
16	chr5:112412000-112435200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:112412200-112432400	Weak transcription	Fetal Intestine Small	intestine
18	chr5:112414200-112425600	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:112417800-112436800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:112418200-112425600	Weak transcription	Lung	lung
21	chr5:112418400-112425400	Weak transcription	Primary T cells from cord blood	blood
22	chr5:112418400-112425600	Weak transcription	Brain Anterior Caudate	brain
23	chr5:112418400-112425600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:112418400-112441600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:112418600-112424400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:112418600-112425000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:112418600-112425200	Weak transcription	HUVEC	blood vessel
28	chr5:112418600-112425200	Weak transcription	NH-A	brain
29	chr5:112418600-112426800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:112418600-112436600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:112418600-112441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:112418800-112425200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:112418800-112425200	Weak transcription	NHDF-Ad	bronchial
34	chr5:112418800-112425800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:112419200-112424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:112419600-112436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:112419800-112425600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:112420200-112425800	Weak transcription	Brain Substantia Nigra	brain
39	chr5:112420600-112425400	Weak transcription	HMEC	breast
40	chr5:112420800-112425400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:112420800-112425600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:112420800-112436800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:112421000-112424800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:112421000-112425200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:112421000-112425200	Weak transcription	HSMM	muscle
46	chr5:112421000-112425600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:112421000-112425600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:112421000-112425800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:112421000-112426600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:112421000-112430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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