Variant report

Variant	rs74134139
Chromosome Location	chr1:184685943-184685944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184682030..184684517-chr1:184685764..184688834,3	K562	blood:
2	chr1:184684929..184687575-chr1:184691047..184693770,2	K562	blood:
3	chr1:184684929..184687575-chr1:184691047..184694725,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16823452	1.00[EUR][1000 genomes]
rs16823480	1.00[EUR][1000 genomes]
rs16823513	1.00[EUR][1000 genomes]
rs2181240	1.00[EUR][1000 genomes]
rs234637	1.00[EUR][1000 genomes]
rs234638	1.00[EUR][1000 genomes]
rs234639	1.00[EUR][1000 genomes]
rs234666	1.00[EUR][1000 genomes]
rs234671	1.00[EUR][1000 genomes]
rs234675	1.00[EUR][1000 genomes]
rs28521358	1.00[EUR][1000 genomes]
rs35543943	1.00[EUR][1000 genomes]
rs56385425	1.00[EUR][1000 genomes]
rs56707979	1.00[EUR][1000 genomes]
rs56796054	1.00[EUR][1000 genomes]
rs58814142	1.00[EUR][1000 genomes]
rs61372488	1.00[EUR][1000 genomes]
rs6664204	1.00[EUR][1000 genomes]
rs669649	1.00[EUR][1000 genomes]
rs73046716	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs73063555	1.00[EUR][1000 genomes]
rs7413163	1.00[EUR][1000 genomes]
rs74132003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132025	1.00[EUR][1000 genomes]
rs74132034	1.00[EUR][1000 genomes]
rs74132036	1.00[EUR][1000 genomes]
rs74132037	1.00[EUR][1000 genomes]
rs74132038	1.00[EUR][1000 genomes]
rs74132050	1.00[EUR][1000 genomes]
rs7521888	1.00[EUR][1000 genomes]
rs7526101	1.00[EUR][1000 genomes]
rs7528332	1.00[EUR][1000 genomes]
rs7541371	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription 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 lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1010371	chr1:184663898-184709570	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1001244	chr1:184667198-184715195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1849889	chr1:184667371-184718601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv872584	chr1:184678290-184716457	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr1:184653200-184705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184654200-184701200	Weak transcription	Stomach Mucosa	stomach
4	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus
5	chr1:184658400-184706800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:184659200-184707000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:184660000-184704200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:184661000-184705600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr1:184661200-184690400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:184661200-184707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:184661400-184690400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr1:184661600-184693200	Strong transcription	Dnd41	blood
13	chr1:184662000-184698000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:184662200-184706600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:184662600-184699400	Weak transcription	Psoas Muscle	Psoas
16	chr1:184665200-184706800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:184665600-184687600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:184665600-184700400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:184666000-184691400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:184666200-184704600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:184668400-184686000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:184668400-184690400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:184668400-184690600	Strong transcription	Fetal Thymus	thymus
24	chr1:184668400-184707000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:184668600-184693000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:184669200-184688800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:184669200-184707000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:184669400-184687400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:184669400-184692600	Strong transcription	Osteobl	bone
30	chr1:184669400-184707000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:184669600-184690400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:184669800-184692600	Strong transcription	Placenta	Placenta
33	chr1:184670800-184690200	Strong transcription	Fetal Intestine Large	intestine
34	chr1:184670800-184690400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:184671000-184686200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:184671200-184686200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:184671200-184687000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:184671200-184690200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:184671200-184707400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:184671400-184692600	Strong transcription	Adipose Nuclei	Adipose
41	chr1:184672600-184686200	Strong transcription	Left Ventricle	heart
42	chr1:184673000-184689800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:184673200-184694600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:184673200-184699400	Weak transcription	Gastric	stomach
45	chr1:184673200-184702800	Weak transcription	Spleen	Spleen
46	chr1:184673400-184687600	Weak transcription	HepG2	liver
47	chr1:184674000-184689200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:184674200-184686400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:184674200-184690200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:184674200-184690400	Strong transcription	NH-A	brain

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