Variant report

Variant	rs2191249
Chromosome Location	chr17:59835864-59835865
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59833847..59836103-chr20:46514176..46516608,2	MCF-7	breast:
2	chr17:59815765..59819190-chr17:59834078..59836491,3	MCF-7	breast:
3	chr17:59833854..59836215-chr19:13952336..13954690,2	MCF-7	breast:
4	chr17:59833992..59836586-chr17:59910616..59913241,3	MCF-7	breast:
5	chr17:59807428..59809215-chr17:59834224..59837182,2	MCF-7	breast:
6	chr17:59835798..59836550-chr3:191964250..191965190,2	MCF-7	breast:
7	chr17:59800383..59801192-chr17:59835796..59836499,3	MCF-7	breast:
8	chr17:59834895..59837098-chr17:59871256..59875287,3	MCF-7	breast:
9	chr17:59627423..59629533-chr17:59833578..59836014,2	MCF-7	breast:

No data

Extended variants
information (count: 109 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1015771	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10221278	0.95[CEU][hapmap];0.81[CHB][hapmap];0.83[TSI][hapmap]
rs10438771	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs10468558	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs10515206	0.95[CEU][hapmap]
rs10515207	0.89[CEU][hapmap]
rs10515211	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10853038	0.95[CEU][hapmap]
rs11079445	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs11650471	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs11651510	0.86[EUR][1000 genomes]
rs11653175	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11657480	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11658539	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11871753	0.95[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12451862	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs12453293	0.87[EUR][1000 genomes]
rs12453801	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs12453935	0.86[CHB][hapmap];0.87[GIH][hapmap];0.92[MEX][hapmap]
rs12453966	0.95[CEU][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs12603617	0.95[CEU][hapmap];0.81[CHB][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs12937232	0.92[EUR][1000 genomes]
rs12948762	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12949659	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12950438	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1468577	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1541346	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs1978244	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1990337	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1990338	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2024188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040608	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs2109252	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109254	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109255	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159450	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2191247	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378884	0.87[EUR][1000 genomes]
rs2378902	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2378905	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2378906	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28571892	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2890012	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs2890013	0.95[CEU][hapmap]
rs2890021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36031690	0.90[EUR][1000 genomes]
rs4309463	0.92[EUR][1000 genomes]
rs4343344	0.92[EUR][1000 genomes]
rs4580256	0.87[EUR][1000 genomes]
rs4968444	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs4968447	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs4968582	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs4988351	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57099937	0.87[EUR][1000 genomes]
rs57393813	0.87[EUR][1000 genomes]
rs62068837	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6504066	0.95[CEU][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap]
rs6504068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504070	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6504071	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6504072	0.95[CEU][hapmap];0.86[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs717961	0.95[CEU][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs717962	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs7207074	0.95[CEU][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs7207881	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7208704	1.00[CEU][hapmap]
rs7212172	0.89[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7212423	0.95[CEU][hapmap];0.80[GIH][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs7213329	0.89[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7213470	0.92[EUR][1000 genomes]
rs7213587	0.95[CEU][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs7213759	0.87[EUR][1000 genomes]
rs7214510	0.81[AMR][1000 genomes]
rs7214884	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7215784	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7216011	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7216756	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7216824	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7217206	0.94[CEU][hapmap];0.83[CHB][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7217292	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220688	0.95[CEU][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs7220719	0.95[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs7222799	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8074949	0.90[EUR][1000 genomes]
rs8075370	0.95[CEU][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs8075397	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8077088	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8078977	0.89[CEU][hapmap];0.85[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8182296	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs9303449	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs9807012	0.82[EUR][1000 genomes]
rs9895987	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9897121	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9897450	0.92[EUR][1000 genomes]
rs9897928	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9900559	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9902995	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[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];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9904292	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9904294	0.92[EUR][1000 genomes]
rs9905870	0.89[EUR][1000 genomes]
rs9906313	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9907299	0.94[CEU][hapmap];0.86[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs991378	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][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	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv908673	chr17:59767501-59926645	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
3	nsv908674	chr17:59800827-59899790	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	nsv575841	chr17:59812748-59914681	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv575842	chr17:59812748-59927307	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
6	nsv908675	chr17:59835864-59937286	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2191249	BRIP1	cis	Nerve Tibial	GTEx
rs2191249	BRIP1	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59794400-59848200	Weak transcription	HUVEC	blood vessel
2	chr17:59804200-59847400	Weak transcription	K562	blood
3	chr17:59807600-59838400	Weak transcription	Fetal Stomach	stomach
4	chr17:59814000-59849000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:59815000-59839200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:59815600-59836000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:59815600-59844200	Weak transcription	HMEC	breast
8	chr17:59815800-59843400	Weak transcription	NHEK	skin
9	chr17:59816800-59887800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:59819000-59842600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr17:59819400-59843600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:59819400-59848200	Weak transcription	Primary B cells from cord blood	blood
13	chr17:59820000-59839200	Weak transcription	Fetal Muscle Leg	muscle
14	chr17:59820000-59841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:59820000-59841400	Weak transcription	Ovary	ovary
16	chr17:59820000-59846600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:59820400-59840200	Weak transcription	Fetal Thymus	thymus
18	chr17:59820400-59877200	Weak transcription	NH-A	brain
19	chr17:59824400-59839200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr17:59825000-59840000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:59825800-59838600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:59825800-59846000	Weak transcription	Fetal Intestine Small	intestine
23	chr17:59825800-59898400	Weak transcription	Thymus	Thymus
24	chr17:59826000-59839400	Weak transcription	Fetal Lung	lung
25	chr17:59826000-59841400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:59826200-59839600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr17:59827000-59839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr17:59827400-59847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr17:59827600-59839200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr17:59827600-59839200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr17:59828200-59840200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:59828400-59837000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:59830200-59843400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:59830600-59839600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr17:59832000-59846200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr17:59832200-59848400	Weak transcription	HepG2	liver
37	chr17:59833400-59839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:59833600-59839200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:59834400-59843200	Weak transcription	Osteobl	bone
40	chr17:59834600-59836000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:59835200-59836000	Strong transcription	A549	lung
42	chr17:59835200-59836200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr17:59835200-59836400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr17:59835400-59836000	Weak transcription	NHDF-Ad	bronchial
45	chr17:59835400-59836400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:59835400-59839000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:59835400-59845800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr17:59835600-59836000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr17:59835600-59836400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr17:59835600-59837200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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