Variant report

Variant	rs6738180
Chromosome Location	chr2:10299524-10299525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:10299245-10299716	K562	blood:	n/a	n/a
2	POLR2A	chr2:10298912-10299588	K562	blood:	n/a	n/a
3	POLR2A	chr2:10299325-10299553	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10272274..10274991-chr2:10298937..10301947,3	K562	blood:
2	chr2:10292229..10297354-chr2:10297861..10300566,4	K562	blood:
3	chr2:10299318..10302918-chr2:10305124..10307341,4	K562	blood:
4	chr2:10275050..10276633-chr2:10298060..10300888,2	K562	blood:
5	chr2:10295754..10297354-chr2:10298419..10300657,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206647	TF binding region
ENSG00000206647	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12052471	0.92[ASN][1000 genomes]
rs13030003	0.81[ASN][1000 genomes]
rs17313689	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17313696	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34277496	0.92[ASN][1000 genomes]
rs35110249	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4669539	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4669540	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669541	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4669542	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4669543	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62129925	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:10276400-10307400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:10276600-10301800	Weak transcription	Osteobl	bone
5	chr2:10277600-10321600	Weak transcription	K562	blood
6	chr2:10278000-10302200	Weak transcription	HSMM	muscle
7	chr2:10278000-10311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:10282200-10316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:10285200-10299800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:10285400-10302000	Weak transcription	HMEC	breast
11	chr2:10285600-10307400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:10285800-10310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:10286200-10299600	Weak transcription	Brain Germinal Matrix	brain
14	chr2:10286400-10301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
16	chr2:10286600-10304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:10286800-10312400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:10287000-10301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:10287000-10303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:10287000-10312000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:10288400-10307600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:10290200-10299600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:10290200-10300400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:10290200-10351400	Strong transcription	Dnd41	blood
25	chr2:10293000-10307600	Weak transcription	Gastric	stomach
26	chr2:10293400-10302800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:10295400-10306400	Strong transcription	Thymus	Thymus
28	chr2:10296000-10302000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:10296000-10303800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:10296200-10300000	Weak transcription	Fetal Brain Female	brain
31	chr2:10296200-10300600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:10296200-10310200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:10296200-10314400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:10296400-10310400	Weak transcription	Hela-S3	cervix
35	chr2:10296400-10312400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:10296400-10312600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:10296800-10303600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:10296800-10304400	Weak transcription	HepG2	liver
39	chr2:10296800-10309800	Weak transcription	A549	lung
40	chr2:10297000-10300600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:10298400-10300600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:10298600-10299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:10298800-10300200	Enhancers	Brain Hippocampus Middle	brain
44	chr2:10298800-10300800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr2:10299000-10299600	Enhancers	Primary T cells from cord blood	blood
46	chr2:10299000-10299600	Genic enhancers	Fetal Muscle Leg	muscle
47	chr2:10299000-10300000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:10299000-10300200	Genic enhancers	Fetal Intestine Small	intestine
49	chr2:10299000-10300200	Enhancers	Placenta	Placenta
50	chr2:10299000-10300400	Weak transcription	Primary monocytes fromperipheralblood	blood

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