Variant report

Variant	rs2012667
Chromosome Location	chr17:38576862-38576863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38575637..38578772-chr17:38581843..38584982,3	MCF-7	breast:
2	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141753	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10305288	1.00[AFR][1000 genomes]
rs10305296	1.00[AFR][1000 genomes]
rs10305303	1.00[AFR][1000 genomes]
rs11540720	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11867902	1.00[CEU][hapmap]
rs12103533	0.92[EUR][1000 genomes]
rs15685	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16965669	0.92[EUR][1000 genomes]
rs16965734	0.92[EUR][1000 genomes]
rs16965736	0.92[EUR][1000 genomes]
rs16965748	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16965774	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16965778	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17557495	1.00[AFR][1000 genomes]
rs17557879	1.00[AFR][1000 genomes]
rs17616879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17617263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17678959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679038	1.00[AFR][1000 genomes]
rs17679086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679361	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680410	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17680704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2229773	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28362320	0.92[EUR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34270904	0.92[EUR][1000 genomes]
rs34300454	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134998	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135019	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135021	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135027	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135030	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45612441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7214783	0.85[EUR][1000 genomes]
rs72819623	1.00[AFR][1000 genomes]
rs72819624	1.00[AFR][1000 genomes]
rs72819628	1.00[AFR][1000 genomes]
rs72819630	1.00[AFR][1000 genomes]
rs72819632	1.00[AFR][1000 genomes]
rs72819633	1.00[AFR][1000 genomes]
rs72819651	1.00[AFR][1000 genomes]
rs8067519	0.92[EUR][1000 genomes]
rs8071687	0.92[EUR][1000 genomes]
rs9889905	0.92[EUR][1000 genomes]
rs9891944	1.00[EUR][1000 genomes]
rs9894364	0.92[EUR][1000 genomes]
rs9894807	0.92[EUR][1000 genomes]
rs9898500	0.92[EUR][1000 genomes]
rs9903293	0.92[EUR][1000 genomes]
rs9909777	0.92[EUR][1000 genomes]
rs9909811	0.92[EUR][1000 genomes]
rs9910373	0.92[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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38574800-38577800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:38574800-38577800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr17:38574800-38578000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr17:38574800-38578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:38574800-38579400	Weak transcription	K562	blood
6	chr17:38574800-38579600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:38574800-38580800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr17:38575000-38577800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:38575000-38579000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr17:38575000-38579400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:38575000-38579400	Weak transcription	Hela-S3	cervix
12	chr17:38575000-38582000	Weak transcription	Psoas Muscle	Psoas
13	chr17:38575400-38579400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr17:38575400-38582000	Weak transcription	Placenta	Placenta
15	chr17:38575400-38588600	Weak transcription	Fetal Stomach	stomach
16	chr17:38576000-38579000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr17:38576000-38580200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:38576000-38580600	Weak transcription	GM12878-XiMat	blood
19	chr17:38576000-38582200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:38576400-38577200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:38576400-38577800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr17:38576400-38578400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr17:38576400-38581000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:38576400-38581000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr17:38576400-38581200	Weak transcription	Primary T cells from cord blood	blood
26	chr17:38576400-38581200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:38576400-38581800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:38576400-38581800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:38576400-38581800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr17:38576400-38581800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:38576400-38581800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr17:38576600-38577800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:38576600-38577800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:38576600-38577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr17:38576600-38577800	Weak transcription	A549	lung
36	chr17:38576600-38579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:38576600-38579200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:38576600-38579200	Weak transcription	Fetal Muscle Leg	muscle
39	chr17:38576600-38579400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr17:38576600-38579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:38576600-38579400	Weak transcription	Spleen	Spleen
42	chr17:38576600-38579400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr17:38576600-38579600	Enhancers	HepG2	liver
44	chr17:38576600-38580000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:38576600-38580800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr17:38576600-38580800	Weak transcription	Fetal Thymus	thymus
47	chr17:38576600-38581200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:38576600-38581800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr17:38576600-38581800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:38576600-38581800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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