Variant report

Variant	rs1775985
Chromosome Location	chr1:86171267-86171268
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86043660..86051626-chr1:86167839..86177430,17	K562	blood:
2	chr1:86046116..86050935-chr1:86168336..86177340,12	K562	blood:
3	chr1:86048055..86050244-chr1:86170828..86173299,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272691	Chromatin interaction
ENSG00000142871	Chromatin interaction
ENSG00000153904	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10747323	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10747324	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs10873711	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10873718	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs10873719	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs1094353	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1094360	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12037294	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12410754	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12756841	0.92[EUR][1000 genomes]
rs12757797	0.88[YRI][hapmap]
rs12758966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360239	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1481200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1617458	0.85[ASN][1000 genomes]
rs17128293	0.92[ASN][1000 genomes]
rs1764287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1764295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1775989	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1775991	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1775992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1813656	0.84[AMR][1000 genomes]
rs2014733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2014750	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs2026772	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2026774	0.87[YRI][hapmap]
rs2389973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2389974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2389975	1.00[EUR][1000 genomes]
rs2773131	0.81[AFR][1000 genomes]
rs2785082	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2970548	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313723	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs313724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs313725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs369999	1.00[CEU][hapmap]
rs381453	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs383558	0.96[EUR][1000 genomes]
rs399547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs401657	0.83[YRI][hapmap];0.96[EUR][1000 genomes]
rs420515	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs425357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs429040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs430956	1.00[CEU][hapmap];0.86[YRI][hapmap];0.96[EUR][1000 genomes]
rs432254	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs4379699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs438401	1.00[CEU][hapmap];0.84[YRI][hapmap];0.96[EUR][1000 genomes]
rs444875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs450953	1.00[CEU][hapmap];0.84[YRI][hapmap];0.96[EUR][1000 genomes]
rs4949917	1.00[CEU][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4949918	1.00[CEU][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6673975	1.00[CEU][hapmap];0.86[YRI][hapmap];0.96[EUR][1000 genomes]
rs6682235	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs6686719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6694808	1.00[CEU][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7521240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7528385	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7529942	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs7533395	1.00[CEU][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7535884	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs7547023	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs7554621	0.92[EUR][1000 genomes]
rs821377	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs821378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs821380	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs821382	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs821383	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821385	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs821397	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs821404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs849158	0.82[CHB][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9651138	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9661608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9661951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9701898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
2	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:86103600-86172600	Weak transcription	Gastric	stomach
4	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
5	chr1:86119600-86172000	Weak transcription	Colonic Mucosa	Colon
6	chr1:86119800-86171800	Weak transcription	Fetal Brain Male	brain
7	chr1:86134200-86172600	Weak transcription	Right Ventricle	heart
8	chr1:86134600-86172400	Weak transcription	Stomach Mucosa	stomach
9	chr1:86135600-86172000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:86141600-86171800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:86142600-86172600	Weak transcription	Thymus	Thymus
12	chr1:86142600-86172600	Weak transcription	Spleen	Spleen
13	chr1:86147000-86172600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:86147200-86172000	Weak transcription	Fetal Kidney	kidney
15	chr1:86147200-86172600	Weak transcription	Psoas Muscle	Psoas
16	chr1:86147200-86172800	Weak transcription	Aorta	Aorta
17	chr1:86155400-86171800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:86157800-86172600	Weak transcription	Fetal Intestine Small	intestine
19	chr1:86157800-86173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:86158000-86173000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:86162000-86171800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:86162400-86171600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:86163000-86172000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:86163200-86171400	Strong transcription	Primary B cells from cord blood	blood
25	chr1:86163200-86172000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:86163200-86172200	Strong transcription	HSMM	muscle
27	chr1:86163400-86171600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:86163600-86172000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:86163800-86171600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:86163800-86171600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:86163800-86171800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:86163800-86172000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr1:86164200-86171600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:86164200-86172000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:86164200-86172000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:86164600-86172000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:86164800-86172000	Strong transcription	Osteobl	bone
38	chr1:86165000-86171400	Strong transcription	HUVEC	blood vessel
39	chr1:86165000-86171800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:86165400-86171400	Strong transcription	HMEC	breast
41	chr1:86165400-86171800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:86165400-86172000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:86165400-86172200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:86165600-86172000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:86165800-86171600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:86165800-86172000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:86165800-86172000	Strong transcription	Adipose Nuclei	Adipose
48	chr1:86166000-86171400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:86166000-86172000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:86166000-86172000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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