Variant report

Variant	rs4972818
Chromosome Location	chr2:173247503-173247504
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	chr2:173241953..173243647-chr2:173245498..173247532,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10207752	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10930552	0.92[EUR][1000 genomes]
rs10930553	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677757	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687888	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477699	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12997279	0.81[AMR][1000 genomes]
rs13020542	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027402	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13028213	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4972814	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972815	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972817	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972819	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173239200-173260200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173244600-173254400	Weak transcription	Lung	lung
3	chr2:173244800-173247600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:173245000-173247600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:173245400-173248000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:173245600-173247600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:173246200-173249400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:173246200-173254400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:173246200-173258400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:173246200-173260200	Weak transcription	Right Atrium	heart
11	chr2:173246400-173247800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:173246400-173248400	Weak transcription	Stomach Mucosa	stomach
13	chr2:173246400-173249600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:173246400-173249600	Weak transcription	Fetal Thymus	thymus
15	chr2:173246400-173249600	Weak transcription	Thymus	Thymus
16	chr2:173246400-173251200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:173246400-173251800	Weak transcription	Fetal Lung	lung
18	chr2:173246600-173247600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:173246600-173247800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:173246600-173248400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:173246600-173251600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:173246600-173251800	Weak transcription	Fetal Heart	heart
23	chr2:173246600-173252200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:173246800-173247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:173246800-173248400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:173247000-173258200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:173247200-173249400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:173247400-173247600	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:173247400-173248200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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