Variant report

Variant	rs2287691
Chromosome Location	chr19:41286163-41286164
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41285848-41288309	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41254259..41260312-chr19:41280225..41287427,15	K562	blood:
2	chr19:41280553..41283413-chr19:41284684..41288209,4	MCF-7	breast:
3	chr19:41280731..41296556-chr19:41299561..41307605,30	MCF-7	breast:
4	chr19:41253800..41258892-chr19:41281807..41286457,14	MCF-7	breast:
5	chr19:41281732..41286442-chr19:41302482..41306628,13	K562	blood:
6	chr19:41283851..41288555-chr19:41290136..41292963,4	MCF-7	breast:
7	chr19:41254259..41259402-chr19:41281476..41286314,17	K562	blood:
8	chr19:41281718..41286533-chr19:41301356..41311124,20	K562	blood:

No data

Variant related genes	Relation type
RAB4B	TF binding region
RAB4B-EGLN2	TF binding region
ENSG00000268797	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000261857	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000188493	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10401344	0.92[JPT][hapmap]
rs10403040	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10405596	0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10405633	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10411008	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10413760	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10416308	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10425480	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs10426415	0.92[JPT][hapmap]
rs11083567	0.85[JPT][hapmap]
rs11083568	0.85[JPT][hapmap]
rs11881124	0.84[JPT][hapmap]
rs17713068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2233152	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2287692	0.86[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660501	0.94[EUR][1000 genomes]
rs3745213	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3875144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56101381	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41284800-41286400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:41285000-41286200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr19:41285000-41286200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr19:41285000-41286600	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr19:41285000-41286800	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr19:41285000-41287800	Weak transcription	Aorta	Aorta
7	chr19:41285000-41292400	Weak transcription	Ovary	ovary
8	chr19:41285000-41303800	Weak transcription	Small Intestine	intestine
9	chr19:41285000-41304000	Weak transcription	Psoas Muscle	Psoas
10	chr19:41285200-41286200	Weak transcription	Primary T cells from cord blood	blood
11	chr19:41285200-41286200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr19:41285200-41286400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:41285200-41286400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr19:41285200-41286400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr19:41285200-41286400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr19:41285200-41287200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:41285200-41287400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:41285200-41287400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:41285200-41287400	Weak transcription	Fetal Stomach	stomach
20	chr19:41285200-41287400	Weak transcription	Gastric	stomach
21	chr19:41285200-41287400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:41285200-41288000	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:41285200-41289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:41285200-41289800	Weak transcription	Adipose Nuclei	Adipose
25	chr19:41285200-41289800	Weak transcription	Brain Angular Gyrus	brain
26	chr19:41285200-41289800	Weak transcription	Brain Substantia Nigra	brain
27	chr19:41285200-41289800	Weak transcription	Fetal Muscle Leg	muscle
28	chr19:41285200-41290200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:41285200-41291600	Weak transcription	Esophagus	oesophagus
30	chr19:41285200-41292200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:41285200-41292400	Weak transcription	Brain Germinal Matrix	brain
32	chr19:41285200-41292400	Weak transcription	Left Ventricle	heart
33	chr19:41285200-41295600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:41285200-41295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:41285200-41298000	Weak transcription	Fetal Lung	lung
36	chr19:41285200-41303200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:41285200-41303400	Weak transcription	Pancreas	Pancrea
38	chr19:41285200-41303600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr19:41285200-41303800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:41285200-41304000	Weak transcription	HSMM	muscle
41	chr19:41285400-41286200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:41285400-41286400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr19:41285400-41286400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:41285400-41286400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:41285400-41287200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:41285400-41287400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr19:41285400-41288000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr19:41285400-41288000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:41285400-41288000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:41285400-41289400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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