Variant report

Variant	rs250306
Chromosome Location	chr5:118669094-118669095
allele	A/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	chr5:118650756..118653747-chr5:118669086..118671011,2	MCF-7	breast:
2	chr5:118405258..118407472-chr5:118664950..118669105,3	K562	blood:

Variant related genes	Relation type
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs250305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250307	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs250306	HSD17B4	cis	cerebellum	SCAN

Chromatin state (count:85 , 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	chr5:118663000-118669600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:118663800-118669200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr5:118664200-118671600	Weak transcription	Small Intestine	intestine
10	chr5:118664200-118673400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:118664400-118678200	Weak transcription	Fetal Kidney	kidney
12	chr5:118664600-118669200	Enhancers	Colonic Mucosa	Colon
13	chr5:118664800-118670600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:118664800-118673000	Weak transcription	HSMM	muscle
15	chr5:118665000-118670400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:118665000-118670600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:118665000-118672600	Weak transcription	Hela-S3	cervix
18	chr5:118665200-118669200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:118665200-118670400	Weak transcription	Osteobl	bone
20	chr5:118665400-118670600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:118665400-118670600	Weak transcription	NHLF	lung
22	chr5:118665400-118677000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:118665600-118670000	Genic enhancers	Dnd41	blood
24	chr5:118665600-118670400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:118665600-118670400	Weak transcription	Aorta	Aorta
26	chr5:118665600-118670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:118665800-118670600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:118665800-118672600	Weak transcription	Fetal Intestine Small	intestine
29	chr5:118665800-118673200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:118666200-118669400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:118666200-118672200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:118666400-118669600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr5:118666600-118670400	Weak transcription	Adipose Nuclei	Adipose
34	chr5:118666600-118672600	Weak transcription	Fetal Stomach	stomach
35	chr5:118666800-118671000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:118667000-118669600	Genic enhancers	K562	blood
37	chr5:118667200-118669200	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:118667600-118669400	Weak transcription	Placenta	Placenta
39	chr5:118667600-118670200	Weak transcription	Spleen	Spleen
40	chr5:118667600-118670400	Weak transcription	Esophagus	oesophagus
41	chr5:118667600-118670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:118667600-118670400	Weak transcription	Left Ventricle	heart
43	chr5:118667600-118670400	Weak transcription	Pancreas	Pancrea
44	chr5:118667600-118671200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:118667600-118671800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:118667600-118673000	Weak transcription	Gastric	stomach
47	chr5:118667800-118670400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:118667800-118670400	Weak transcription	Liver	Liver
49	chr5:118668000-118669800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr5:118668000-118672200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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