Variant report

Variant	rs3754753
Chromosome Location	chr2:173865284-173865285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173863206..173866013-chr2:173868383..173871052,3	K562	blood:
2	chr2:173848627..173852133-chr2:173863177..173865329,4	MCF-7	breast:
3	chr2:173863272..173865335-chr2:173868630..173870883,3	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1011345	0.97[ASN][1000 genomes]
rs11687902	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687990	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885983	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12616563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12624093	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12693015	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12693016	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12996130	0.88[ASN][1000 genomes]
rs13000260	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13413796	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1446981	0.92[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs1446982	0.87[EUR][1000 genomes]
rs16861125	0.97[ASN][1000 genomes]
rs16861148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16861173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17302307	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17374295	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1823151	0.92[ASN][1000 genomes]
rs1979186	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2121483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2166588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2242079	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2258918	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2305461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2592944	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2602217	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2676521	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769225	0.97[ASN][1000 genomes]
rs3769226	0.97[ASN][1000 genomes]
rs3769227	0.93[ASN][1000 genomes]
rs3769228	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769236	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3820841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3820843	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820844	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972523	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66487735	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718902	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72896070	0.95[ASN][1000 genomes]
rs72909440	0.97[ASN][1000 genomes]
rs72909444	0.97[ASN][1000 genomes]
rs72909446	0.97[ASN][1000 genomes]
rs7585997	0.82[ASN][1000 genomes]
rs7603772	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604728	0.82[GIH][hapmap]

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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173835800-173886800	Weak transcription	Lung	lung
2	chr2:173852400-173868000	Weak transcription	Gastric	stomach
3	chr2:173856000-173885200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:173856200-173882400	Weak transcription	Left Ventricle	heart
5	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:173858400-173869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:173860600-173868000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:173860800-173877800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:173861000-173867400	Weak transcription	Stomach Mucosa	stomach
10	chr2:173861000-173888000	Weak transcription	Fetal Stomach	stomach
11	chr2:173861200-173866800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:173861200-173867400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:173861400-173867800	Strong transcription	Liver	Liver
14	chr2:173861600-173866800	Weak transcription	Fetal Kidney	kidney
15	chr2:173861600-173867600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:173861800-173868000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:173862200-173867000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:173862200-173881800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:173862200-173883600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:173862400-173870600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:173862800-173868600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:173862800-173874000	Weak transcription	Small Intestine	intestine
23	chr2:173863400-173871600	Weak transcription	Right Atrium	heart
24	chr2:173863800-173866800	Enhancers	Fetal Brain Male	brain
25	chr2:173863800-173867400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:173864000-173866800	Weak transcription	Hela-S3	cervix
27	chr2:173864600-173870400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:173864800-173866000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:173864800-173866000	Weak transcription	A549	lung
30	chr2:173864800-173867000	Weak transcription	Fetal Lung	lung
31	chr2:173865000-173868200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:173865200-173865400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:173865200-173865400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:173865200-173865400	Enhancers	Psoas Muscle	Psoas
35	chr2:173865200-173866400	Weak transcription	Fetal Heart	heart
36	chr2:173865200-173867000	Enhancers	Ovary	ovary

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