Variant report

Variant	rs1251065
Chromosome Location	chr1:76207684-76207685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:76207563-76207693	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:76207601-76207796	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76205678..76212783-chr1:76212896..76217702,9	K562	blood:
2	chr1:76204080..76208296-chr1:76250097..76254787,8	K562	blood:

Variant related genes	Relation type
ACADM	TF binding region
ENSG00000117054	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000206620	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10873727	0.80[ASN][1000 genomes]
rs10873728	0.80[ASN][1000 genomes]
rs10873738	0.80[ASN][1000 genomes]
rs10873739	0.80[ASN][1000 genomes]
rs1093006	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1093009	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1093011	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11161700	0.80[ASN][1000 genomes]
rs11161704	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1144328	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1144331	0.84[ASN][1000 genomes]
rs1144333	0.84[ASN][1000 genomes]
rs1144337	0.84[ASN][1000 genomes]
rs1144338	0.80[ASN][1000 genomes]
rs1144339	0.84[ASN][1000 genomes]
rs1144341	0.84[ASN][1000 genomes]
rs1144342	0.84[ASN][1000 genomes]
rs1146572	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146577	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146587	0.87[ASN][1000 genomes]
rs1146592	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1146593	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146602	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146613	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1146616	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1146625	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1146645	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1146647	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1146648	0.81[ASN][1000 genomes]
rs1146649	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146651	0.84[ASN][1000 genomes]
rs1146652	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146656	0.80[ASN][1000 genomes]
rs12076093	0.80[ASN][1000 genomes]
rs12078151	0.80[ASN][1000 genomes]
rs12081710	0.80[ASN][1000 genomes]
rs12090712	0.80[ASN][1000 genomes]
rs12385715	0.80[ASN][1000 genomes]
rs12401729	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12403889	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12405178	0.80[ASN][1000 genomes]
rs1250875	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1250876	0.88[ASN][1000 genomes]
rs1250877	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1250878	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1250880	0.89[ASN][1000 genomes]
rs1250882	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1251077	0.86[ASN][1000 genomes]
rs1251078	0.88[ASN][1000 genomes]
rs1251079	0.88[ASN][1000 genomes]
rs1251270	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1251272	0.80[ASN][1000 genomes]
rs1251273	0.84[ASN][1000 genomes]
rs1251274	0.84[ASN][1000 genomes]
rs1251275	0.80[ASN][1000 genomes]
rs12703	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1323734	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1621198	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1631498	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1694421	0.80[ASN][1000 genomes]
rs1694428	0.81[ASN][1000 genomes]
rs1767457	0.86[ASN][1000 genomes]
rs1767459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1770512	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1770513	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1812589	0.80[ASN][1000 genomes]
rs1960528	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2012536	0.85[ASN][1000 genomes]
rs2788655	0.85[ASN][1000 genomes]
rs4949884	0.80[ASN][1000 genomes]
rs5019550	0.80[ASN][1000 genomes]
rs56350137	0.80[ASN][1000 genomes]
rs5745327	0.85[ASN][1000 genomes]
rs5745343	0.84[ASN][1000 genomes]
rs5745354	0.84[ASN][1000 genomes]
rs5745392	0.84[ASN][1000 genomes]
rs61676733	0.80[ASN][1000 genomes]
rs696677	0.93[ASN][1000 genomes]
rs696679	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs699677	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs699683	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs699824	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs699825	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7516477	0.89[ASN][1000 genomes]
rs814851	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs814855	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs814873	0.90[ASN][1000 genomes]
rs814874	0.90[ASN][1000 genomes]
rs814897	0.83[ASN][1000 genomes]
rs815303	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs815309	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr1:76190800-76208000	Weak transcription	Gastric	stomach
2	chr1:76191200-76219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:76191800-76208000	Weak transcription	A549	lung
4	chr1:76191800-76208200	Weak transcription	Brain Substantia Nigra	brain
5	chr1:76191800-76209400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:76192000-76208000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:76192000-76210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:76192000-76220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:76192000-76220600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:76192200-76217800	Weak transcription	Fetal Brain Male	brain
12	chr1:76192200-76222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:76193600-76220200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:76193800-76207800	Weak transcription	Right Ventricle	heart
15	chr1:76193800-76208000	Weak transcription	Hela-S3	cervix
16	chr1:76193800-76208600	Weak transcription	Small Intestine	intestine
17	chr1:76193800-76220200	Weak transcription	Fetal Heart	heart
18	chr1:76194000-76208000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:76195600-76219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:76195800-76213800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:76196000-76210800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr1:76196000-76222000	Strong transcription	Liver	Liver
23	chr1:76196200-76212600	Strong transcription	Fetal Thymus	thymus
24	chr1:76196400-76210800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:76196400-76213000	Strong transcription	Dnd41	blood
26	chr1:76197600-76209600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:76197600-76211400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:76197600-76212000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:76197600-76219400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:76197800-76210600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:76198000-76210400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:76198200-76209800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:76198200-76210400	Strong transcription	Adipose Nuclei	Adipose
34	chr1:76198200-76210600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:76198400-76210400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:76198600-76208000	Weak transcription	NHLF	lung
37	chr1:76198600-76210200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:76198600-76210400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:76198600-76211600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:76198600-76212000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:76198800-76209400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:76198800-76210600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:76198800-76210800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:76199000-76210200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:76199600-76218600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:76199600-76220400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:76201000-76208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:76201000-76208000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:76201000-76208000	Weak transcription	HSMMtube	muscle
50	chr1:76201200-76207800	Weak transcription	Rectal Smooth Muscle	rectum

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