Variant report

Variant	rs17155349
Chromosome Location	chr8:9048597-9048598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9048360..9049931-chr8:9051500..9053085,2	K562	blood:
2	chr8:9048360..9049861-chr8:9051500..9053163,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17155346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155370	0.82[AFR][1000 genomes]
rs2409549	1.00[AMR][1000 genomes]
rs330006	1.00[AMR][1000 genomes]
rs330016	1.00[AMR][1000 genomes]
rs330030	1.00[AMR][1000 genomes]
rs330038	1.00[AMR][1000 genomes]
rs330040	1.00[AMR][1000 genomes]
rs330046	1.00[AMR][1000 genomes]
rs374155	1.00[AMR][1000 genomes]
rs73663823	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1016574	chr8:9007186-9061281	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv539461	chr8:9007186-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv890339	chr8:9029413-9110822	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv890340	chr8:9029413-9121398	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1025197	chr8:9037251-9116414	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1024217	chr8:9046230-9062514	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
17	nsv1023341	chr8:9046230-9111975	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
18	esv2753344	chr8:9046312-9062490	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
19	nsv1022214	chr8:9047178-9062514	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
20	nsv1028024	chr8:9048104-9064002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9043200-9048800	Weak transcription	Esophagus	oesophagus
2	chr8:9045400-9048600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:9045600-9048600	Weak transcription	NH-A	brain
4	chr8:9046200-9048800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:9047200-9049200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:9047200-9049400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:9047200-9049400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:9047200-9049800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:9047400-9048800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:9047400-9049400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:9047400-9049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:9047600-9048800	Enhancers	HMEC	breast
13	chr8:9047600-9049000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:9047600-9049200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:9047600-9049400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:9047600-9049400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:9047600-9049800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:9047600-9055000	Weak transcription	K562	blood
19	chr8:9047800-9048600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:9047800-9048600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:9047800-9048800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:9047800-9048800	Weak transcription	Placenta	Placenta
23	chr8:9047800-9049200	Enhancers	Brain Anterior Caudate	brain
24	chr8:9047800-9049400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:9048000-9048600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:9048000-9048600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:9048200-9048600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:9048200-9048600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:9048200-9048600	Enhancers	Brain Hippocampus Middle	brain
30	chr8:9048200-9049400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr8:9048200-9049400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:9048200-9049400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:9048400-9048600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:9048400-9049000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:9048400-9049200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:9048400-9051800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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