Variant report

Variant	rs1775991
Chromosome Location	chr1:86163312-86163313
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	chr1:86045096..86047952-chr1:86162550..86165148,2	K562	blood:
2	chr1:86162153..86164641-chr1:86165348..86167179,2	K562	blood:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10747324	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10873711	1.00[CEU][hapmap]
rs10873718	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10873719	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1094360	0.82[EUR][1000 genomes]
rs12756841	0.84[EUR][1000 genomes]
rs12758966	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1481200	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1764287	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1764295	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1775985	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1775986	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1775987	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1775992	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2014733	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2014750	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2026772	1.00[CEU][hapmap]
rs2389973	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2389974	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2389975	0.91[EUR][1000 genomes]
rs2970548	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs313724	1.00[TSI][hapmap]
rs369999	1.00[CEU][hapmap]
rs381453	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs383558	0.86[EUR][1000 genomes]
rs399547	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs401657	0.86[EUR][1000 genomes]
rs420515	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs425357	1.00[CEU][hapmap]
rs429040	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs430956	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs432254	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4379699	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs438401	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs444875	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs450953	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4949917	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4949918	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6673975	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs6682235	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs6686719	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6694808	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7521240	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7528385	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7529942	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7533395	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7535884	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7547023	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7554621	0.84[EUR][1000 genomes]
rs821383	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs821387	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs821388	0.91[EUR][1000 genomes]
rs821392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs821397	0.82[EUR][1000 genomes]
rs821400	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs849158	0.91[EUR][1000 genomes]
rs9651138	0.84[EUR][1000 genomes]
rs9661608	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9661951	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9701898	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9793556	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][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:119 , 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	chr1:86115200-86167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:86117000-86165800	Weak transcription	Fetal Brain Female	brain
6	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
7	chr1:86119600-86172000	Weak transcription	Colonic Mucosa	Colon
8	chr1:86119800-86171800	Weak transcription	Fetal Brain Male	brain
9	chr1:86132800-86165800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:86133600-86163400	Weak transcription	Fetal Heart	heart
11	chr1:86134200-86172600	Weak transcription	Right Ventricle	heart
12	chr1:86134600-86172400	Weak transcription	Stomach Mucosa	stomach
13	chr1:86135200-86171200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:86135600-86172000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:86141600-86171800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:86142400-86170600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:86142600-86163800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:86142600-86166200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:86142600-86166400	Weak transcription	Lung	lung
20	chr1:86142600-86170800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:86142600-86171000	Weak transcription	Brain Substantia Nigra	brain
22	chr1:86142600-86172600	Weak transcription	Thymus	Thymus
23	chr1:86142600-86172600	Weak transcription	Spleen	Spleen
24	chr1:86142800-86166400	Weak transcription	Placenta	Placenta
25	chr1:86144200-86163600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:86144200-86165000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:86144200-86166200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:86144200-86166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:86144200-86168200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:86144400-86165800	Weak transcription	K562	blood
31	chr1:86144400-86167600	Weak transcription	Fetal Lung	lung
32	chr1:86144400-86170400	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:86145800-86165400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:86146000-86166000	Weak transcription	Fetal Intestine Large	intestine
35	chr1:86146000-86170600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:86146200-86164200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:86146400-86165800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:86146600-86165200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:86146600-86166200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:86147000-86172600	Weak transcription	Brain Angular Gyrus	brain
41	chr1:86147200-86169400	Weak transcription	Brain Anterior Caudate	brain
42	chr1:86147200-86172000	Weak transcription	Fetal Kidney	kidney
43	chr1:86147200-86172600	Weak transcription	Psoas Muscle	Psoas
44	chr1:86147200-86172800	Weak transcription	Aorta	Aorta
45	chr1:86147600-86166200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:86149000-86166000	Weak transcription	HepG2	liver
47	chr1:86152600-86165400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:86154800-86165400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:86154800-86166000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:86155400-86171800	Weak transcription	Brain Cingulate Gyrus	brain

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