Variant report

Variant	rs1876736
Chromosome Location	chr5:118665393-118665394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:118665375-118666928	PBDE	blood:	n/a	n/a
2	MAZ	chr5:118665042-118666765	K562	blood:	n/a	n/a
3	GATA1	chr5:118664659-118667087	PBDE	blood:	n/a	chr5:118666137-118666154 chr5:118666483-118666492 chr5:118666485-118666492 chr5:118666097-118666109
4	POLR2A	chr5:118665328-118665638	Hela-S3	cervix:	n/a	n/a
5	MAX	chr5:118665355-118665908	K562	blood:	n/a	n/a
6	RCOR1	chr5:118664609-118665453	K562	blood:	n/a	n/a
7	POLR2A	chr5:118664701-118667427	K562	blood:	n/a	n/a
8	JUND	chr5:118665386-118666801	K562	blood:	n/a	chr5:118665888-118665897

No.	Distal block	Cell Line	Cell type
1	chr5:118643237..118645769-chr5:118664741..118667190,3	K562	blood:
2	chr5:118662612..118665528-chr5:118665801..118667898,2	MCF-7	breast:
3	chr5:118665150..118667137-chr5:118667473..118670063,2	K562	blood:
4	chr5:118405258..118407472-chr5:118664950..118669105,3	K562	blood:
5	chr5:118665304..118666908-chr5:118684151..118685664,2	K562	blood:
6	chr5:118602762..118604388-chr5:118664246..118665991,2	MCF-7	breast:
7	chr5:118405258..118407734-chr5:118663807..118667698,3	K562	blood:

Variant related genes	Relation type
TNFAIP8	TF binding region
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11950366	0.90[YRI][hapmap]
rs11956042	0.90[YRI][hapmap]
rs11956215	0.87[LWK][hapmap];0.89[MKK][hapmap];0.90[YRI][hapmap]
rs11956285	0.88[LWK][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap]
rs11959729	0.80[YRI][hapmap]
rs11959964	0.90[YRI][hapmap]
rs11960654	0.90[YRI][hapmap]
rs1876737	0.90[YRI][hapmap]
rs2052473	0.87[CHB][hapmap]
rs250307	0.83[JPT][hapmap]
rs4392658	0.90[YRI][hapmap]
rs4895189	0.83[CHB][hapmap]
rs62375109	0.86[ASN][1000 genomes]
rs6875361	0.90[YRI][hapmap]
rs7704026	0.88[LWK][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap]
rs7704386	0.88[LWK][hapmap];0.88[MKK][hapmap]
rs7704398	0.88[LWK][hapmap];0.88[MKK][hapmap]
rs7711101	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1876736	HSD17B4	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118657200-118665400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:118658200-118670400	Weak transcription	Lung	lung
3	chr5:118658800-118665600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:118660200-118666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:118660200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:118660200-118678600	Weak transcription	HepG2	liver
8	chr5:118660400-118666000	Enhancers	Adipose Nuclei	Adipose
9	chr5:118660400-118668600	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:118660400-118670400	Weak transcription	Right Atrium	heart
11	chr5:118661000-118666200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:118661400-118665600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:118661400-118665800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:118661800-118667000	Enhancers	Fetal Heart	heart
15	chr5:118662200-118666200	Weak transcription	Left Ventricle	heart
16	chr5:118662200-118667200	Weak transcription	HMEC	breast
17	chr5:118662400-118665400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:118662600-118666600	Enhancers	Fetal Stomach	stomach
19	chr5:118662600-118667000	Genic enhancers	Fetal Thymus	thymus
20	chr5:118662600-118669000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:118662600-118670400	Weak transcription	Right Ventricle	heart
22	chr5:118662800-118665800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr5:118662800-118665800	Weak transcription	Gastric	stomach
24	chr5:118662800-118668800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr5:118663000-118665600	Weak transcription	Stomach Mucosa	stomach
26	chr5:118663000-118667200	Weak transcription	Spleen	Spleen
27	chr5:118663000-118669600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:118663200-118666200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:118663200-118666400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:118663400-118665600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:118663400-118665800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:118663400-118665800	Enhancers	Fetal Intestine Small	intestine
33	chr5:118663400-118667600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:118663600-118665400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:118663600-118665800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:118663600-118665800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:118663600-118666600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:118663600-118668600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:118663800-118665800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr5:118663800-118666000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:118663800-118666000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr5:118663800-118666400	Enhancers	Fetal Lung	lung
43	chr5:118663800-118666600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr5:118663800-118667200	Enhancers	Colon Smooth Muscle	Colon
45	chr5:118663800-118667600	Enhancers	Duodenum Mucosa	Duodenum
46	chr5:118663800-118669200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:118664000-118665600	Enhancers	NHEK	skin
48	chr5:118664000-118666200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:118664000-118666400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:118664000-118666600	Enhancers	Rectal Smooth Muscle	rectum

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