Variant report

Variant	rs185864
Chromosome Location	chr1:10687726-10687727
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10567723..10570074-chr1:10684964..10687923,2	K562	blood:
2	chr1:10678742..10684022-chr1:10686327..10690416,7	K562	blood:
3	chr1:10687277..10689217-chr1:10709797..10712535,2	K562	blood:
4	chr1:10682455..10684022-chr1:10686446..10688809,2	K562	blood:
5	chr1:10679310..10682289-chr1:10684036..10687827,3	K562	blood:
6	chr1:10657337..10659085-chr1:10685902..10688707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130940	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10864468	0.87[CEU][hapmap]
rs190775	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs192563	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs284235	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs284237	1.00[CEU][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs284238	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs284267	0.87[CEU][hapmap]
rs284280	1.00[CEU][hapmap]
rs284283	0.87[CEU][hapmap];0.82[GIH][hapmap]
rs284301	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs284303	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284304	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs481453	0.87[CEU][hapmap];0.93[GIH][hapmap];0.88[TSI][hapmap]
rs488854	1.00[CEU][hapmap]
rs576102	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010424	chr1:10667559-10747891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv464394	chr1:10673094-10767902	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv545396	chr1:10673094-10767902	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1828181	chr1:10673130-10829937	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv464505	chr1:10673194-10767785	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv545397	chr1:10673194-10767785	Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv464616	chr1:10673194-10767902	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv545398	chr1:10673194-10767902	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv464727	chr1:10673194-10777260	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv545399	chr1:10673194-10777260	Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1003427	chr1:10675978-10727284	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1010420	chr1:10675978-10747891	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1004063	chr1:10675978-10780682	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1014003	chr1:10675978-10788624	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1014818	chr1:10675978-10846823	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	esv29966	chr1:10676800-10874152	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv828030	chr1:10677562-10795161	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv871824	chr1:10684098-10743363	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv871950	chr1:10684098-10750432	Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv870683	chr1:10684098-10757199	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv871361	chr1:10684098-10767785	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv871290	chr1:10684098-10777260	Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv871191	chr1:10684098-10796866	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv464838	chr1:10684098-10842021	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
27	nsv545400	chr1:10684098-10842021	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs185864	KIF1B	cis	multi-tissue	Pritchard
rs185864	TAS1R1	cis	cerebellum	SCAN
rs185864	DHRS3	cis	parietal	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:10653600-10688600	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:10654800-10691600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:10658200-10694400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:10658400-10688600	Weak transcription	Fetal Lung	lung
7	chr1:10658400-10691600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:10659200-10687800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:10659800-10690800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:10660200-10697600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:10661800-10692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:10662200-10694400	Weak transcription	HSMM	muscle
13	chr1:10662400-10694400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:10664400-10698000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:10672600-10694800	Strong transcription	Fetal Intestine Small	intestine
16	chr1:10673000-10688400	Weak transcription	Fetal Heart	heart
17	chr1:10673200-10688800	Weak transcription	Psoas Muscle	Psoas
18	chr1:10673600-10688600	Weak transcription	Right Atrium	heart
19	chr1:10675600-10690200	Weak transcription	GM12878-XiMat	blood
20	chr1:10676000-10691600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:10676200-10691600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:10676400-10690600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:10676400-10691800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:10676400-10691800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:10676600-10691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:10676800-10691000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:10677000-10690000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:10680400-10693800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:10680400-10694400	Weak transcription	HSMMtube	muscle
30	chr1:10681200-10697600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:10681600-10691600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:10681800-10687800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:10681800-10691800	Strong transcription	Primary T cells from cord blood	blood
34	chr1:10682000-10687800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:10682000-10692600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:10682200-10694000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:10682200-10694600	Strong transcription	Fetal Intestine Large	intestine
38	chr1:10682400-10690600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:10682600-10687800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:10682600-10693000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:10683600-10687800	Strong transcription	Esophagus	oesophagus
42	chr1:10683800-10687800	Strong transcription	Thymus	Thymus
43	chr1:10684600-10688800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:10684600-10694600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:10685000-10688600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:10685000-10689600	Weak transcription	Colonic Mucosa	Colon
47	chr1:10685000-10692000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:10685000-10695200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:10685200-10688400	Weak transcription	Left Ventricle	heart
50	chr1:10685200-10688600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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