Variant report

Variant	rs6694697
Chromosome Location	chr1:45315319-45315320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45312610..45316210-chr1:45318036..45321693,5	K562	blood:
2	chr1:45312444..45315409-chr1:46048277..46051211,2	K562	blood:
3	chr1:45309196..45310830-chr1:45314406..45315963,2	K562	blood:
4	chr1:45284215..45286612-chr1:45313284..45315465,2	MCF-7	breast:
5	chr1:45312859..45315409-chr1:46048277..46051184,2	K562	blood:
6	chr1:45311178..45313247-chr1:45314183..45316147,2	MCF-7	breast:
7	chr1:45306094..45308477-chr1:45314879..45317391,2	K562	blood:

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction
ENSG00000226499	Chromatin interaction
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10890315	0.83[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs11211049	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211054	1.00[MEX][hapmap];0.85[MKK][hapmap];0.83[YRI][hapmap]
rs11573589	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057534	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084076	0.85[AFR][1000 genomes]
rs12084731	0.84[AFR][1000 genomes]
rs12092104	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095987	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12119410	1.00[CHB][hapmap]
rs6429551	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6429555	1.00[MEX][hapmap]
rs6671639	0.87[AFR][1000 genomes]
rs6671658	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs7532882	1.00[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
3	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS 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 lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
4	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
5	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
6	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
7	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45308800-45345400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45309000-45315800	Weak transcription	Lung	lung
3	chr1:45309000-45324600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:45309000-45332600	Weak transcription	Spleen	Spleen
5	chr1:45309000-45335600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:45309200-45316000	Weak transcription	Pancreas	Pancrea
7	chr1:45309200-45316200	Weak transcription	Gastric	stomach
8	chr1:45309200-45323200	Weak transcription	HSMM	muscle
9	chr1:45309200-45336800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:45309200-45337800	Weak transcription	Psoas Muscle	Psoas
11	chr1:45309200-45343000	Weak transcription	Esophagus	oesophagus
12	chr1:45309200-45345200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:45309400-45315400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:45309400-45315400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:45309400-45315400	Weak transcription	Osteobl	bone
17	chr1:45309400-45315600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:45309400-45315600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:45309400-45315600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:45309400-45315600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:45309400-45315600	Weak transcription	K562	blood
22	chr1:45309400-45315800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:45309400-45315800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:45309400-45315800	Weak transcription	Liver	Liver
25	chr1:45309400-45315800	Weak transcription	Fetal Intestine Large	intestine
26	chr1:45309400-45315800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:45309400-45315800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:45309400-45316000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:45309400-45316200	Weak transcription	Dnd41	blood
30	chr1:45309400-45316400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:45309400-45317200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr1:45309400-45320600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:45309400-45320800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:45309400-45321600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:45309400-45321600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:45309400-45322400	Weak transcription	Primary B cells from cord blood	blood
37	chr1:45309400-45323200	Weak transcription	HSMMtube	muscle
38	chr1:45309400-45326400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:45309400-45338200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:45309400-45339600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:45309400-45340000	Weak transcription	NHLF	lung
42	chr1:45309400-45340400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:45309400-45343000	Weak transcription	Colonic Mucosa	Colon
44	chr1:45309400-45350400	Weak transcription	HUVEC	blood vessel
45	chr1:45309600-45315400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:45309600-45315600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:45309600-45316000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:45309600-45322600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:45309600-45343000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:45309600-45352400	Weak transcription	Fetal Heart	heart

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