Variant report

Variant	rs16866538
Chromosome Location	chr2:179659912-179659913
allele	A/G
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	POLR2A	chr2:179659645-179659915	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:179659888-179659916	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
TTN	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10184892	0.88[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12615288	0.81[ASN][1000 genomes]
rs13420249	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279472	0.91[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4894044	0.88[GIH][hapmap]
rs73040346	0.88[EUR][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	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:179610800-179671400	Weak transcription	Ovary	ovary
4	chr2:179627600-179663800	Weak transcription	Thymus	Thymus
5	chr2:179629600-179666200	Weak transcription	GM12878-XiMat	blood
6	chr2:179632400-179667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:179636200-179660600	Weak transcription	Brain Anterior Caudate	brain
8	chr2:179639000-179672000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:179639400-179671400	Weak transcription	Gastric	stomach
10	chr2:179646000-179684800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:179647800-179672000	Weak transcription	Fetal Thymus	thymus
12	chr2:179648400-179667200	Weak transcription	HSMM	muscle
13	chr2:179650400-179664400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:179650800-179662800	Weak transcription	Fetal Intestine Large	intestine
15	chr2:179653800-179660400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:179654200-179660600	Strong transcription	HSMMtube	muscle
17	chr2:179655400-179660000	Strong transcription	Pancreas	Pancrea
18	chr2:179655400-179660600	Strong transcription	Primary T cells from cord blood	blood
19	chr2:179655600-179660200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:179655600-179662400	Genic enhancers	Fetal Heart	heart
21	chr2:179655800-179660000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:179655800-179670800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:179656200-179666200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:179656200-179668400	Weak transcription	Fetal Intestine Small	intestine
25	chr2:179656400-179667600	Weak transcription	Adipose Nuclei	Adipose
26	chr2:179656600-179660600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:179656800-179674400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:179657200-179660200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:179657400-179663800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:179657800-179668800	Weak transcription	Aorta	Aorta
31	chr2:179658200-179666800	Weak transcription	Psoas Muscle	Psoas
32	chr2:179658800-179660000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:179658800-179660000	Genic enhancers	Fetal Muscle Leg	muscle
34	chr2:179658800-179660000	Genic enhancers	Left Ventricle	heart
35	chr2:179658800-179660000	Genic enhancers	Right Ventricle	heart
36	chr2:179658800-179660000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
37	chr2:179659000-179660000	Enhancers	Fetal Brain Male	brain
38	chr2:179659000-179660000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
39	chr2:179659000-179660200	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr2:179659200-179671400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:179659400-179664800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:179659400-179698000	Weak transcription	Primary B cells from cord blood	blood
43	chr2:179659600-179660000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:179659600-179660000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:179659600-179664800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:179659800-179671200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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