Variant report

Variant	rs74147612
Chromosome Location	chr1:225793367-225793368
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225792350..225796305-chr1:225796696..225799620,4	MCF-7	breast:
2	chr1:225792909..225795707-chr1:225797297..225800991,3	K562	blood:
3	chr1:225792909..225794753-chr1:225799491..225801344,2	K562	blood:
4	chr1:225782318..225785291-chr1:225791224..225794186,2	MCF-7	breast:
5	chr1:225784703..225788501-chr1:225791324..225793418,3	K562	blood:
6	chr1:225791587..225793375-chr1:225840069..225842587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55752939	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56159213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56396885	1.00[AMR][1000 genomes]
rs74147610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147622	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147624	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147626	1.00[AMR][1000 genomes]
rs74147628	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
2	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225748800-225799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:225768800-225805600	Weak transcription	Aorta	Aorta
4	chr1:225776400-225797200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:225777000-225793400	Weak transcription	Pancreas	Pancrea
6	chr1:225778600-225794200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:225780200-225794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
10	chr1:225782000-225795000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:225782400-225795200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:225782400-225806200	Weak transcription	Right Ventricle	heart
13	chr1:225784200-225807800	Weak transcription	Fetal Brain Male	brain
14	chr1:225785200-225800000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:225785400-225794600	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:225787800-225794600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:225788400-225795000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:225788400-225795200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:225788400-225796200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:225788600-225794800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:225789800-225793600	Enhancers	Fetal Heart	heart
22	chr1:225790400-225793400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:225790400-225793600	Enhancers	Colon Smooth Muscle	Colon
24	chr1:225790400-225794800	Weak transcription	Brain Germinal Matrix	brain
25	chr1:225791200-225798800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:225791400-225793400	Weak transcription	Small Intestine	intestine
27	chr1:225791400-225796600	Weak transcription	Brain Angular Gyrus	brain
28	chr1:225791600-225795000	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:225791600-225795200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:225791600-225795400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:225791600-225796600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:225791600-225799600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:225791600-225802000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:225791800-225794600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:225791800-225794600	Weak transcription	HSMMtube	muscle
36	chr1:225792000-225793400	Enhancers	A549	lung
37	chr1:225792000-225794400	Weak transcription	Fetal Lung	lung
38	chr1:225792000-225794600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:225792000-225794600	Weak transcription	HSMM	muscle
40	chr1:225792000-225794800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:225792000-225799600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:225792000-225805000	Weak transcription	NHDF-Ad	bronchial
43	chr1:225792200-225795000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:225792200-225795000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:225792200-225800000	Weak transcription	Hela-S3	cervix
46	chr1:225792400-225793400	Enhancers	Fetal Intestine Large	intestine
47	chr1:225792600-225793400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:225792600-225794400	Enhancers	Gastric	stomach
49	chr1:225792800-225793400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:225792800-225793400	Weak transcription	HepG2	liver

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