Variant report

Variant	rs57947152
Chromosome Location	chr2:10324865-10324866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10320031..10321774-chr2:10324619..10326821,2	K562	blood:
2	chr2:10318881..10321554-chr2:10323338..10324897,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57272940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59578075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73913995	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73913996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73913997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73913998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73913999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914002	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873636	chr2:10300390-10331919	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
3	chr2:10290200-10351400	Strong transcription	Dnd41	blood
4	chr2:10302400-10337600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:10304400-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:10311800-10331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:10311800-10337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:10312800-10326800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:10313000-10327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:10313200-10327400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:10314000-10340400	Weak transcription	HepG2	liver
13	chr2:10319200-10326800	Weak transcription	Fetal Intestine Small	intestine
14	chr2:10320200-10326600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:10320400-10326600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:10320600-10337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:10320800-10332400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:10320800-10336800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:10321800-10325600	Weak transcription	Fetal Thymus	thymus
20	chr2:10321800-10333400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:10321800-10338000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:10322400-10325000	Strong transcription	Thymus	Thymus
23	chr2:10323000-10327000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:10323200-10326000	Enhancers	Fetal Muscle Leg	muscle
25	chr2:10323400-10326000	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:10323600-10326000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:10323600-10326200	Enhancers	Fetal Stomach	stomach
28	chr2:10324200-10326600	Enhancers	Brain Germinal Matrix	brain
29	chr2:10324400-10325600	Enhancers	Fetal Brain Female	brain
30	chr2:10324400-10325800	Enhancers	HSMMtube	muscle
31	chr2:10324600-10325000	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:10324600-10325000	Enhancers	Left Ventricle	heart
33	chr2:10324600-10325400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:10324600-10325400	Enhancers	Fetal Lung	lung
35	chr2:10324600-10325800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:10324600-10325800	Enhancers	HSMM	muscle
37	chr2:10324600-10326000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:10324600-10326000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:10324600-10326000	Enhancers	Brain Hippocampus Middle	brain
40	chr2:10324600-10326000	Enhancers	Fetal Brain Male	brain
41	chr2:10324600-10326000	Enhancers	Ovary	ovary
42	chr2:10324800-10325000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:10324800-10325000	Enhancers	Gastric	stomach
44	chr2:10324800-10325200	Enhancers	Brain Substantia Nigra	brain
45	chr2:10324800-10325200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:10324800-10325400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:10324800-10325400	Enhancers	Brain Anterior Caudate	brain
48	chr2:10324800-10325400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:10324800-10325400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:10324800-10325400	Enhancers	NHDF-Ad	bronchial

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