Variant report

Variant	rs73141632
Chromosome Location	chr2:7130108-7130109
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	chr2:7071092..7072701-chr2:7129085..7131806,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2444299	0.81[EUR][1000 genomes]
rs309316	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs309318	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs309320	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs364891	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3771997	0.87[ASN][1000 genomes]
rs3772001	0.85[ASN][1000 genomes]
rs3772004	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3772005	0.86[ASN][1000 genomes]
rs388038	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs397865	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs407427	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs436955	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs441766	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs443363	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs454213	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59015682	0.87[ASN][1000 genomes]
rs60194945	0.87[ASN][1000 genomes]
rs6715577	0.89[ASN][1000 genomes]
rs73141623	0.87[ASN][1000 genomes]
rs73157884	0.85[ASN][1000 genomes]
rs771273	0.85[EUR][1000 genomes];0.88[ASN][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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
2	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
5	chr2:7121200-7130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
7	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:7121800-7130200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:7123600-7133400	Weak transcription	Fetal Stomach	stomach
10	chr2:7123800-7131000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:7123800-7132400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:7124000-7130800	Weak transcription	Fetal Brain Female	brain
13	chr2:7124000-7132000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:7124000-7132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:7126200-7132800	Strong transcription	Dnd41	blood
17	chr2:7126600-7130800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:7126600-7131000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:7126600-7147600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:7126800-7131000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:7126800-7131200	Weak transcription	K562	blood
22	chr2:7126800-7132400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:7126800-7133200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:7126800-7141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:7126800-7148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:7127000-7130800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:7127000-7130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:7127200-7130600	Strong transcription	Primary T cells from cord blood	blood
29	chr2:7127200-7130800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:7127400-7130800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:7127400-7132400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:7127400-7132400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:7127400-7133200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:7127600-7130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:7127600-7132200	Weak transcription	Fetal Brain Male	brain
37	chr2:7127600-7134000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:7127600-7138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:7127600-7143600	Weak transcription	HepG2	liver
40	chr2:7127800-7130200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:7127800-7130400	Enhancers	Brain Angular Gyrus	brain
42	chr2:7127800-7130400	Enhancers	Brain Anterior Caudate	brain
43	chr2:7127800-7130800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:7127800-7131200	Weak transcription	Fetal Lung	lung
45	chr2:7127800-7131200	Weak transcription	Spleen	Spleen
46	chr2:7127800-7131400	Weak transcription	Ovary	ovary
47	chr2:7127800-7132000	Weak transcription	Psoas Muscle	Psoas
48	chr2:7127800-7132200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:7127800-7132400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:7128000-7130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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