Variant report

Variant	rs35940001
Chromosome Location	chr6:34806540-34806541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34803335..34805787-chr6:34806399..34809385,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1018622	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1051115	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961041	0.89[EUR][1000 genomes]
rs11963234	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11966100	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967912	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11968954	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11968972	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12111129	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13193526	0.92[ASN][1000 genomes]
rs13195029	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13195361	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13195490	0.91[EUR][1000 genomes]
rs13196785	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196983	0.83[EUR][1000 genomes]
rs13200792	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13205210	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206245	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13208149	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210470	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212699	0.85[EUR][1000 genomes]
rs13213239	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13213288	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213604	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214596	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13215208	0.89[ASN][1000 genomes]
rs16895659	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296361	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296362	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395603	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2395605	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28360525	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34261333	0.88[EUR][1000 genomes]
rs34355573	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34377413	0.89[EUR][1000 genomes]
rs34463942	0.89[EUR][1000 genomes]
rs34480956	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34681295	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34840245	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35081279	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35103554	0.85[EUR][1000 genomes]
rs35143960	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35186650	0.89[EUR][1000 genomes]
rs35195182	0.89[EUR][1000 genomes]
rs35203657	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35285054	0.92[ASN][1000 genomes]
rs35369977	0.89[EUR][1000 genomes]
rs35444671	0.85[EUR][1000 genomes]
rs35744142	0.89[EUR][1000 genomes]
rs36026951	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3734261	0.95[ASN][1000 genomes]
rs3734266	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438945	0.88[EUR][1000 genomes]
rs4646933	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457792	0.81[ASN][1000 genomes]
rs6457796	0.83[ASN][1000 genomes]
rs6457797	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6457798	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66672772	0.89[EUR][1000 genomes]
rs66926909	0.88[EUR][1000 genomes]
rs67622212	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67895864	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6904996	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6908462	0.84[EUR][1000 genomes]
rs6909393	0.84[EUR][1000 genomes]
rs6910824	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6914031	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6914351	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6925175	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926373	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934741	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6941453	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71567467	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72892286	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72910111	0.84[EUR][1000 genomes]
rs72910167	0.87[EUR][1000 genomes]
rs7739385	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7743724	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7743949	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749750	0.84[EUR][1000 genomes]
rs7755354	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7758743	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7759412	0.83[EUR][1000 genomes]
rs7759985	0.84[EUR][1000 genomes]
rs7761391	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7763989	0.83[EUR][1000 genomes]
rs7764126	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7775947	0.91[EUR][1000 genomes]
rs7776439	0.91[EUR][1000 genomes]
rs912717	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9296133	0.92[ASN][1000 genomes]
rs9462002	0.81[EUR][1000 genomes]
rs9462003	0.82[EUR][1000 genomes]
rs9462027	0.95[ASN][1000 genomes]
rs9469852	0.84[EUR][1000 genomes]
rs9469904	0.95[ASN][1000 genomes]
rs9968782	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv885796	chr6:34739726-34823187	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv1016703	chr6:34784801-34827693	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
19	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
20	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35940001	UHRF1BP1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34779200-34807400	Weak transcription	A549	lung
2	chr6:34779400-34841000	Weak transcription	NH-A	brain
3	chr6:34781600-34824000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:34783200-34807400	Weak transcription	Psoas Muscle	Psoas
5	chr6:34786600-34838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:34787600-34807400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:34788200-34831800	Weak transcription	HUVEC	blood vessel
8	chr6:34788400-34826600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:34788400-34826800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:34788400-34830800	Weak transcription	Fetal Heart	heart
11	chr6:34789000-34811000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:34789000-34811800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:34789400-34808200	Strong transcription	Liver	Liver
14	chr6:34790000-34825000	Weak transcription	Stomach Mucosa	stomach
15	chr6:34792000-34807600	Weak transcription	Gastric	stomach
16	chr6:34797400-34824600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:34797800-34819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:34800000-34810000	Strong transcription	Fetal Intestine Large	intestine
19	chr6:34800600-34811600	Strong transcription	Fetal Thymus	thymus
20	chr6:34800800-34806800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:34800800-34825200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:34801200-34811000	Strong transcription	Fetal Intestine Small	intestine
23	chr6:34802000-34806600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:34802000-34806800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:34802000-34807600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr6:34802000-34808000	Strong transcription	Dnd41	blood
27	chr6:34802000-34808200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:34802000-34811200	Strong transcription	Fetal Muscle Leg	muscle
29	chr6:34802800-34808600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:34802800-34823400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:34803200-34807600	Weak transcription	NHLF	lung
32	chr6:34803200-34823800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:34803400-34807600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:34803400-34823600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:34803600-34806800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:34803600-34807400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:34803600-34807400	Weak transcription	HMEC	breast
38	chr6:34803800-34808200	Strong transcription	Adipose Nuclei	Adipose
39	chr6:34803800-34824200	Weak transcription	Fetal Brain Male	brain
40	chr6:34804000-34807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:34804200-34818000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:34804200-34819000	Weak transcription	Fetal Lung	lung
43	chr6:34804200-34819200	Weak transcription	Colonic Mucosa	Colon
44	chr6:34804200-34819200	Weak transcription	Esophagus	oesophagus
45	chr6:34804200-34823400	Weak transcription	Small Intestine	intestine
46	chr6:34804200-34824200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:34804400-34806600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr6:34804400-34807000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:34804400-34807000	Weak transcription	Osteobl	bone
50	chr6:34804400-34807200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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