Variant report

Variant	rs2657565
Chromosome Location	chr1:225790256-225790257
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	chr1:225770172..225772127-chr1:225789997..225792684,2	K562	blood:
2	chr1:225790028..225792726-chr1:225793823..225796331,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1764344	1.00[AMR][1000 genomes]
rs1771315	1.00[AMR][1000 genomes]
rs2131411	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2615065	1.00[AMR][1000 genomes]
rs2615072	1.00[AMR][1000 genomes]
rs2639717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2840947	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2840951	1.00[AMR][1000 genomes]
rs2840961	1.00[AMR][1000 genomes]
rs4653641	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:62 , 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	chr1:225774800-225793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:225776400-225797200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:225777000-225793400	Weak transcription	Pancreas	Pancrea
7	chr1:225778600-225794200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:225780200-225790400	Weak transcription	NHLF	lung
9	chr1:225780200-225794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:225781000-225791400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
13	chr1:225781200-225793200	Weak transcription	Ovary	ovary
14	chr1:225782000-225791200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:225782000-225795000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:225782400-225795200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:225782400-225806200	Weak transcription	Right Ventricle	heart
18	chr1:225783400-225790400	Weak transcription	NH-A	brain
19	chr1:225784000-225790600	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:225784200-225791400	Weak transcription	Fetal Lung	lung
21	chr1:225784200-225807800	Weak transcription	Fetal Brain Male	brain
22	chr1:225784400-225791600	Weak transcription	HSMMtube	muscle
23	chr1:225784800-225790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:225784800-225791200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:225784800-225793200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:225785000-225790800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:225785200-225800000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:225785400-225790400	Weak transcription	HMEC	breast
29	chr1:225785400-225794600	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:225785800-225790400	Weak transcription	HSMM	muscle
31	chr1:225786200-225790400	Weak transcription	NHEK	skin
32	chr1:225787000-225790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:225787800-225794600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:225788000-225791400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:225788000-225793000	Weak transcription	Fetal Intestine Small	intestine
36	chr1:225788400-225790400	Weak transcription	Brain Angular Gyrus	brain
37	chr1:225788400-225790800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:225788400-225795000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:225788400-225795200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:225788400-225796200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:225788600-225791200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:225788600-225794800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:225789000-225790400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:225789400-225792200	Enhancers	Hela-S3	cervix
45	chr1:225789600-225790600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:225789600-225791000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:225789600-225791200	Enhancers	HUVEC	blood vessel
48	chr1:225789800-225790400	Enhancers	A549	lung
49	chr1:225789800-225791600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:225789800-225793000	Enhancers	Stomach Mucosa	stomach

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