Variant report

Variant	rs2436867
Chromosome Location	chr8:103811092-103811093
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103807056..103813356-chr8:103813833..103821645,12	K562	blood:
2	chr8:103807910..103813469-chr8:103817363..103822857,7	K562	blood:
3	chr8:103806083..103808991-chr8:103810445..103812933,2	K562	blood:
4	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
5	chr8:103666700..103669944-chr8:103810419..103814847,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10808382	0.82[CHB][hapmap]
rs2436857	0.82[CHB][hapmap]
rs2513910	0.82[CHB][hapmap]
rs3018952	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2436867	KB-1732A1.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103799400-103811200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:103803800-103816400	Weak transcription	Small Intestine	intestine
3	chr8:103803800-103817000	Weak transcription	Aorta	Aorta
4	chr8:103805400-103811200	Enhancers	Fetal Intestine Small	intestine
5	chr8:103807600-103811800	Enhancers	HepG2	liver
6	chr8:103808000-103811200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:103808000-103811600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:103808000-103816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:103808000-103816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:103808000-103816800	Weak transcription	Fetal Heart	heart
11	chr8:103808000-103817000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:103808000-103817200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:103808200-103811200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:103808200-103811600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:103808200-103816200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:103808800-103811400	Enhancers	Fetal Intestine Large	intestine
17	chr8:103809000-103812000	Enhancers	A549	lung
18	chr8:103809400-103816800	Weak transcription	Psoas Muscle	Psoas
19	chr8:103809600-103819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:103809800-103811200	Enhancers	Primary T cells from cord blood	blood
21	chr8:103809800-103811200	Enhancers	Fetal Thymus	thymus
22	chr8:103810000-103816200	Weak transcription	Lung	lung
23	chr8:103810000-103816800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:103810000-103818200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:103810200-103811400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:103810200-103816800	Weak transcription	Thymus	Thymus
27	chr8:103810400-103812800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:103810400-103814800	Weak transcription	Liver	Liver
29	chr8:103810400-103816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:103810800-103812000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:103810800-103816000	Weak transcription	Placenta	Placenta
32	chr8:103810800-103816800	Weak transcription	Duodenum Mucosa	Duodenum

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