Variant report

Variant	rs2847297
Chromosome Location	chr18:12797694-12797695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12795924..12798139-chr18:12932916..12934960,2	K562	blood:
2	chr1:149819992..149822597-chr18:12797547..12799973,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261716	Chromatin interaction
ENSG00000203819	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11875687	0.90[JPT][hapmap]
rs16939895	0.85[JPT][hapmap]
rs2847259	0.81[EUR][1000 genomes]
rs2847288	0.87[LWK][hapmap];0.83[MKK][hapmap];0.81[AFR][1000 genomes]
rs484020	0.85[JPT][hapmap]
rs487273	0.94[JPT][hapmap]
rs547268	0.89[JPT][hapmap]
rs6505765	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs657555	0.90[JPT][hapmap]
rs7234029	0.90[JPT][hapmap]
rs7241016	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
8	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Rheumatoid arthritis	22446963	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2847297	RP11-973H7.4	cis	Whole Blood	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12767400-12815800	Weak transcription	Gastric	stomach
2	chr18:12776200-12800800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr18:12776400-12800000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr18:12776800-12819800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
6	chr18:12778000-12801200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:12782000-12811200	Weak transcription	Right Ventricle	heart
8	chr18:12784400-12801200	Weak transcription	Fetal Intestine Small	intestine
9	chr18:12784600-12809000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:12785000-12803600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr18:12786800-12799800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:12787400-12808800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr18:12787600-12815800	Weak transcription	Pancreas	Pancrea
14	chr18:12788400-12802000	Weak transcription	Colon Smooth Muscle	Colon
15	chr18:12789000-12802600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr18:12789000-12821400	Weak transcription	Small Intestine	intestine
17	chr18:12789200-12814200	Weak transcription	Fetal Kidney	kidney
18	chr18:12789600-12808800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:12789800-12809000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:12789800-12809000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:12790200-12828000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr18:12790400-12809000	Weak transcription	HSMM	muscle
23	chr18:12790400-12813600	Weak transcription	A549	lung
24	chr18:12790400-12814000	Weak transcription	Osteobl	bone
25	chr18:12790400-12815800	Weak transcription	K562	blood
26	chr18:12790600-12820000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr18:12791200-12815800	Weak transcription	Brain Germinal Matrix	brain
28	chr18:12791200-12819600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr18:12791400-12819600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr18:12791400-12837000	Weak transcription	NHDF-Ad	bronchial
31	chr18:12791600-12798000	Strong transcription	Primary B cells from cord blood	blood
32	chr18:12791600-12802800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr18:12791600-12828000	Weak transcription	HUVEC	blood vessel
34	chr18:12791800-12803000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr18:12791800-12821600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:12792200-12800400	Strong transcription	Primary T cells from cord blood	blood
37	chr18:12792200-12815800	Weak transcription	NH-A	brain
38	chr18:12792600-12799000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr18:12792800-12802600	Weak transcription	Fetal Brain Male	brain
40	chr18:12792800-12802800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr18:12792800-12815800	Weak transcription	Brain Angular Gyrus	brain
42	chr18:12792800-12819600	Weak transcription	NHLF	lung
43	chr18:12793000-12802200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr18:12793000-12811400	Strong transcription	Fetal Thymus	thymus
45	chr18:12794200-12799600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:12794200-12799800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr18:12794400-12799000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr18:12794400-12806400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr18:12794600-12797800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr18:12794600-12797800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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