Variant report

Variant	rs6757206
Chromosome Location	chr2:48554784-48554785
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	chr2:48542620..48544627-chr2:48553697..48556453,2	K562	blood:
2	chr2:48549627..48551864-chr2:48552790..48555987,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10153773	0.82[ASN][1000 genomes]
rs10174717	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10180295	0.92[ASN][1000 genomes]
rs10186237	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10193072	0.92[ASN][1000 genomes]
rs10199431	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10208124	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11676168	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11682044	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11685861	0.88[AMR][1000 genomes]
rs11690690	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12616792	0.83[ASN][1000 genomes]
rs12713008	0.83[ASN][1000 genomes]
rs12713009	0.81[ASN][1000 genomes]
rs13383364	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13385535	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13386751	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13387171	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13388291	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13392004	0.81[AMR][1000 genomes]
rs13426834	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13432998	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2471405	0.81[ASN][1000 genomes]
rs28806843	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28841370	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4290706	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4344965	0.86[AMR][1000 genomes]
rs4411759	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4547573	0.90[ASN][1000 genomes]
rs4641990	0.89[ASN][1000 genomes]
rs56163539	0.82[AMR][1000 genomes]
rs56352447	0.93[ASN][1000 genomes]
rs57668696	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58660534	0.86[ASN][1000 genomes]
rs59264464	0.90[ASN][1000 genomes]
rs59412192	0.90[ASN][1000 genomes]
rs59761994	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60677957	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62136987	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62137001	0.86[ASN][1000 genomes]
rs62137002	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62137003	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62137005	0.86[ASN][1000 genomes]
rs62137006	0.86[ASN][1000 genomes]
rs62137007	0.86[ASN][1000 genomes]
rs62137008	0.83[ASN][1000 genomes]
rs62137009	0.83[ASN][1000 genomes]
rs62137015	0.86[AMR][1000 genomes]
rs62138801	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6545027	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6545028	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6545029	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6545030	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545034	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6545035	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6545036	0.87[AMR][1000 genomes]
rs6712029	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6743757	0.87[AMR][1000 genomes]
rs6749773	0.81[AMR][1000 genomes]
rs72818493	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72820405	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72887649	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7340322	0.84[ASN][1000 genomes]
rs7562069	0.89[AMR][1000 genomes]
rs7562816	0.88[AMR][1000 genomes]
rs7568960	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7579932	0.88[AMR][1000 genomes]
rs7600794	0.91[AMR][1000 genomes]
rs7606104	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9309152	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48543400-48568600	Weak transcription	HSMM	muscle
2	chr2:48543600-48555400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:48543600-48556600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:48543600-48559400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:48543600-48561000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:48543600-48570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:48544200-48559600	Weak transcription	Fetal Kidney	kidney
8	chr2:48544400-48556200	Weak transcription	NHDF-Ad	bronchial
9	chr2:48544400-48558600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:48544400-48570400	Weak transcription	NHEK	skin
11	chr2:48544400-48570800	Weak transcription	HMEC	breast
12	chr2:48544600-48558600	Weak transcription	Spleen	Spleen
13	chr2:48544600-48564400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:48544800-48559400	Weak transcription	Right Atrium	heart
15	chr2:48546600-48556200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:48548200-48555200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:48548400-48555200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:48548400-48556600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:48548600-48570600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:48549800-48555000	Weak transcription	Dnd41	blood
21	chr2:48550400-48562200	Enhancers	Brain Substantia Nigra	brain
22	chr2:48550600-48559400	Enhancers	Brain Hippocampus Middle	brain
23	chr2:48551600-48558600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:48552000-48556600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:48552000-48556600	Weak transcription	HUVEC	blood vessel
26	chr2:48552000-48558800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:48552200-48555000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:48552200-48555400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:48552400-48555200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:48552400-48555400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:48552400-48556600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:48552400-48556600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:48552400-48556600	Weak transcription	Fetal Brain Male	brain
34	chr2:48552400-48557800	Weak transcription	K562	blood
35	chr2:48552400-48561000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:48552400-48561600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:48552400-48566200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:48552400-48570600	Weak transcription	Aorta	Aorta
39	chr2:48552600-48555200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:48552600-48555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:48552600-48556200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:48552600-48556600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:48553000-48555400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:48553200-48554800	Enhancers	Adipose Nuclei	Adipose
45	chr2:48553200-48555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:48553200-48556200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:48553400-48555200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:48553400-48555200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:48553400-48555400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:48553400-48558600	Weak transcription	Primary T cells fromperipheralblood	blood

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