Variant report

Variant	rs74118912
Chromosome Location	chr1:165810910-165810911
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165740929..165742597-chr1:165810397..165813179,2	K562	blood:
2	chr1:165734875..165737199-chr1:165810836..165813345,2	K562	blood:
3	chr1:165806807..165812397-chr1:165814507..165819170,6	MCF-7	breast:
4	chr1:165810645..165813480-chr1:165823292..165825548,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61110997	1.00[AFR][1000 genomes]
rs74118913	0.87[AFR][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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	nsv818544	chr1:165797966-165811729	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165798600-165811000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:165798800-165811000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:165798800-165811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:165798800-165811400	Weak transcription	Esophagus	oesophagus
5	chr1:165798800-165811800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:165798800-165814200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:165799000-165811000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:165799000-165811200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:165799000-165811800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:165799000-165811800	Weak transcription	Fetal Intestine Large	intestine
11	chr1:165799000-165811800	Weak transcription	Fetal Stomach	stomach
12	chr1:165799000-165818200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:165799200-165811000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:165799200-165811400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:165799200-165811400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:165799200-165811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:165799200-165815800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:165799400-165811000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:165800600-165811600	Weak transcription	Fetal Brain Male	brain
20	chr1:165802800-165811200	Weak transcription	Ovary	ovary
21	chr1:165806400-165811000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:165806400-165811800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:165806600-165811400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:165806800-165811400	Weak transcription	Spleen	Spleen
25	chr1:165807000-165811200	Weak transcription	Thymus	Thymus
26	chr1:165807200-165811000	Weak transcription	Fetal Brain Female	brain
27	chr1:165807600-165811000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:165807600-165811600	Weak transcription	Adipose Nuclei	Adipose
29	chr1:165807600-165812800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:165807800-165811600	Weak transcription	Fetal Lung	lung
31	chr1:165808000-165811000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:165808000-165811000	Weak transcription	Lung	lung
33	chr1:165808000-165811200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:165808200-165814200	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:165808600-165811600	Enhancers	K562	blood
36	chr1:165808800-165811400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:165809000-165811200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:165809400-165811400	Weak transcription	Left Ventricle	heart
39	chr1:165809600-165812600	Enhancers	Fetal Heart	heart
40	chr1:165809600-165812600	Enhancers	Fetal Intestine Small	intestine
41	chr1:165810600-165811000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:165810600-165811000	Enhancers	GM12878-XiMat	blood
43	chr1:165810600-165811400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:165810600-165811800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:165810600-165812000	Enhancers	A549	lung
46	chr1:165810600-165812400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr1:165810600-165812400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:165810600-165812400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:165810600-165812400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:165810600-165812400	Flanking Active TSS	Dnd41	blood

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