Variant report

Variant	rs8071267
Chromosome Location	chr17:46195926-46195927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46188096..46189774-chr17:46193080..46195986,2	K562	blood:
2	chr17:46194453..46197293-chr17:46201950..46204423,2	MCF-7	breast:
3	chr17:46186937..46189774-chr17:46193080..46195996,3	K562	blood:

Variant related genes	Relation type
ENSG00000002919	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12603115	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12603380	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12952670	0.80[EUR][1000 genomes]
rs2072441	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62064954	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv1007058	chr17:46188741-46200367	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46186000-46196200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:46186000-46198600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:46186200-46196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:46186200-46198600	Weak transcription	Fetal Brain Male	brain
5	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:46186400-46196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr17:46186400-46196000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:46186400-46198600	Weak transcription	Small Intestine	intestine
9	chr17:46186400-46198800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:46186600-46196000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:46187600-46198400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:46188200-46201200	Strong transcription	Fetal Intestine Small	intestine
13	chr17:46188200-46207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:46188400-46201400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:46188600-46196200	Weak transcription	Psoas Muscle	Psoas
16	chr17:46189000-46202600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:46189200-46197800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:46189200-46199000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr17:46189400-46198600	Strong transcription	Brain Anterior Caudate	brain
20	chr17:46189400-46204200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:46189600-46198800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:46189600-46200600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr17:46189600-46201800	Strong transcription	Fetal Muscle Leg	muscle
24	chr17:46189800-46202000	Strong transcription	Fetal Stomach	stomach
25	chr17:46190000-46201400	Strong transcription	Lung	lung
26	chr17:46190000-46204800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:46190200-46201600	Strong transcription	Liver	Liver
28	chr17:46190400-46196800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:46190400-46200600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr17:46190400-46201600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:46190400-46205000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr17:46190800-46196200	Weak transcription	Fetal Kidney	kidney
33	chr17:46190800-46196200	Weak transcription	Hela-S3	cervix
34	chr17:46190800-46201400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:46191000-46197600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:46191200-46201800	Strong transcription	Adipose Nuclei	Adipose
37	chr17:46191200-46220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:46191400-46196000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr17:46191400-46196000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr17:46191600-46204600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr17:46191800-46201200	Strong transcription	Fetal Intestine Large	intestine
42	chr17:46191800-46201600	Strong transcription	Primary T cells from cord blood	blood
43	chr17:46191800-46204600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:46192000-46197000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:46192000-46201000	Strong transcription	Left Ventricle	heart
46	chr17:46192000-46201200	Strong transcription	Placenta	Placenta
47	chr17:46192200-46199200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:46192200-46200200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr17:46192200-46201200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:46192200-46201600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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