Variant report

Variant	rs374415234
Chromosome Location	chr5:118670320-118670321
allele	-/GTGT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118666728..118668661-chr5:118669320..118670898,2	MCF-7	breast:
2	chr5:118650756..118653747-chr5:118669086..118671011,2	MCF-7	breast:
3	chr5:118602801..118604637-chr5:118670249..118672077,2	MCF-7	breast:
4	chr5:118669449..118670965-chr5:118681990..118684958,2	K562	blood:
5	chr5:118322596..118324427-chr5:118669439..118671541,2	MCF-7	breast:
6	chr5:118670103..118672210-chr5:118744741..118746294,2	MCF-7	breast:
7	chr5:118666448..118669414-chr5:118669488..118671183,2	MCF-7	breast:
8	chr5:118667237..118669895-chr5:118670074..118672597,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882775	chr5:118669094-118691888	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118658200-118670400	Weak transcription	Lung	lung
2	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:118660200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:118660200-118678600	Weak transcription	HepG2	liver
5	chr5:118660400-118670400	Weak transcription	Right Atrium	heart
6	chr5:118662600-118670400	Weak transcription	Right Ventricle	heart
7	chr5:118664200-118671600	Weak transcription	Small Intestine	intestine
8	chr5:118664200-118673400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:118664400-118678200	Weak transcription	Fetal Kidney	kidney
10	chr5:118664800-118670600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:118664800-118673000	Weak transcription	HSMM	muscle
12	chr5:118665000-118670400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:118665000-118670600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:118665000-118672600	Weak transcription	Hela-S3	cervix
15	chr5:118665200-118670400	Weak transcription	Osteobl	bone
16	chr5:118665400-118670600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:118665400-118670600	Weak transcription	NHLF	lung
18	chr5:118665400-118677000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:118665600-118670400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:118665600-118670400	Weak transcription	Aorta	Aorta
21	chr5:118665600-118670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:118665800-118670600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:118665800-118672600	Weak transcription	Fetal Intestine Small	intestine
24	chr5:118665800-118673200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:118666200-118672200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:118666600-118670400	Weak transcription	Adipose Nuclei	Adipose
27	chr5:118666600-118672600	Weak transcription	Fetal Stomach	stomach
28	chr5:118666800-118671000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:118667600-118670400	Weak transcription	Esophagus	oesophagus
30	chr5:118667600-118670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:118667600-118670400	Weak transcription	Left Ventricle	heart
32	chr5:118667600-118670400	Weak transcription	Pancreas	Pancrea
33	chr5:118667600-118671200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:118667600-118671800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:118667600-118673000	Weak transcription	Gastric	stomach
36	chr5:118667800-118670400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:118667800-118670400	Weak transcription	Liver	Liver
38	chr5:118668000-118672200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr5:118668200-118671200	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr5:118668400-118670400	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr5:118668400-118670800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:118668400-118671800	Flanking Active TSS	NHEK	skin
43	chr5:118668400-118672200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr5:118668600-118670600	Active TSS	GM12878-XiMat	blood
45	chr5:118668600-118671000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:118668600-118671600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr5:118668600-118672000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:118668800-118671200	Active TSS	Duodenum Mucosa	Duodenum
49	chr5:118669000-118670400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:118669000-118670400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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