Variant report

Variant	rs2298502
Chromosome Location	chr18:9783264-9783265
allele	G/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	ELF1	chr18:9783060-9783445	K562	blood:	n/a	chr18:9783298-9783309
2	RCOR1	chr18:9781967-9783641	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9779058..9780938-chr18:9782106..9783733,2	K562	blood:
2	chr18:9782128..9783894-chr18:9913808..9915982,2	K562	blood:

Variant related genes	Relation type
ENSG00000266127	TF binding region
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12605635	1.00[CEU][hapmap]
rs34154304	0.86[ASN][1000 genomes]
rs56830227	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv909367	chr18:9765845-9787464	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9758600-9785000	Weak transcription	Left Ventricle	heart
2	chr18:9759000-9785200	Weak transcription	HSMM	muscle
3	chr18:9771800-9786800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:9771800-9796000	Weak transcription	HUVEC	blood vessel
5	chr18:9771800-9803800	Weak transcription	Fetal Stomach	stomach
6	chr18:9771800-9807800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:9772000-9788200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:9772000-9788400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr18:9772000-9797400	Weak transcription	Colon Smooth Muscle	Colon
10	chr18:9772200-9797000	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:9773200-9797200	Weak transcription	Brain Anterior Caudate	brain
12	chr18:9773600-9807000	Weak transcription	Lung	lung
13	chr18:9774600-9787400	Weak transcription	HSMMtube	muscle
14	chr18:9775400-9797000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr18:9775600-9806400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr18:9777000-9792200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:9777600-9783600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr18:9780200-9807000	Weak transcription	Pancreas	Pancrea
19	chr18:9781200-9784000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:9781400-9783400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:9781400-9783400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:9781400-9783400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr18:9781400-9783400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:9781800-9783600	Enhancers	Ovary	ovary
25	chr18:9781800-9784600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr18:9782000-9783400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr18:9782000-9783400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:9782000-9783400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:9782000-9783400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr18:9782000-9783400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:9782000-9783400	Enhancers	Osteobl	bone
32	chr18:9782000-9783600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:9782000-9783800	Enhancers	NHDF-Ad	bronchial
34	chr18:9782000-9784200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:9782200-9783400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr18:9782400-9783600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr18:9782400-9785000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:9782400-9785000	Weak transcription	Spleen	Spleen
39	chr18:9782400-9787800	Weak transcription	Primary B cells from cord blood	blood
40	chr18:9782400-9792400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr18:9782400-9792600	Weak transcription	Aorta	Aorta
42	chr18:9782400-9802600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr18:9782400-9802600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr18:9782400-9803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr18:9782600-9783400	Enhancers	Primary B cells from peripheral blood	blood
46	chr18:9782600-9783400	Enhancers	Fetal Intestine Large	intestine
47	chr18:9782600-9783400	Enhancers	A549	lung
48	chr18:9782600-9784000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr18:9782600-9785200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr18:9782600-9787200	Weak transcription	K562	blood

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