Variant report

Variant	rs17416694
Chromosome Location	chr8:103113727-103113728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103112507..103115331-chr8:103120087..103122301,2	K562	blood:
2	chr8:103111624..103115089-chr8:103119935..103122230,3	MCF-7	breast:
3	chr8:103084257..103086284-chr8:103112303..103114668,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13261528	1.00[ASN][1000 genomes]
rs13278875	1.00[ASN][1000 genomes]
rs1465164	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465165	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465166	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868899	1.00[ASN][1000 genomes]
rs16869130	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869132	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17414892	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415702	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415729	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415778	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496928	1.00[ASN][1000 genomes]
rs17498430	1.00[ASN][1000 genomes]
rs17498920	1.00[ASN][1000 genomes]
rs17499768	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500046	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500151	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500306	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500367	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17506740	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17506775	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507464	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507512	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34297513	1.00[ASN][1000 genomes]
rs34356268	1.00[ASN][1000 genomes]
rs35166521	1.00[ASN][1000 genomes]
rs35316247	1.00[ASN][1000 genomes]
rs3899035	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4483125	1.00[ASN][1000 genomes]
rs72681127	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72681128	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72681129	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72681131	1.00[ASN][1000 genomes]
rs72681134	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72681136	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72681138	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891238	chr8:103055520-103116959	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103104800-103118800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:103106000-103117600	Weak transcription	Fetal Heart	heart
3	chr8:103107600-103114400	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:103108400-103118800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:103108400-103120000	Weak transcription	Gastric	stomach
6	chr8:103108600-103114600	Weak transcription	Psoas Muscle	Psoas
7	chr8:103109800-103120000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:103110200-103117600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:103110400-103114600	Weak transcription	Lung	lung
10	chr8:103110600-103114600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:103110600-103114600	Weak transcription	Left Ventricle	heart
12	chr8:103110600-103116400	Weak transcription	Primary T cells from cord blood	blood
13	chr8:103110600-103116800	Weak transcription	GM12878-XiMat	blood
14	chr8:103110800-103115600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr8:103111000-103115000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:103111400-103116200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:103111400-103116800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:103111600-103116200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:103112200-103114800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:103112400-103115000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:103112400-103115400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:103112400-103117800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:103112600-103114400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:103112600-103115200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:103112800-103113800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:103112800-103115200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:103112800-103115600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:103113000-103115600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:103113000-103119600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:103113200-103113800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr8:103113200-103114400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:103113200-103114400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:103113200-103114400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:103113400-103114200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:103113400-103114400	Weak transcription	Fetal Kidney	kidney
36	chr8:103113400-103114600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:103113600-103113800	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:103113600-103114400	Enhancers	Fetal Brain Female	brain
39	chr8:103113600-103114600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:103113600-103114600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:103113600-103114600	Weak transcription	Fetal Brain Male	brain
42	chr8:103113600-103114600	Weak transcription	Ovary	ovary
43	chr8:103113600-103116400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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