Variant report

Variant	rs7601758
Chromosome Location	chr2:64554737-64554738
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64276338..64277502-chr2:64554729..64555729,5	MCF-7	breast:
2	chr2:64488474..64490275-chr2:64553073..64555333,2	K562	blood:
3	chr2:64554284..64556297-chr2:64556572..64559001,2	MCF-7	breast:
4	chr2:64553992..64556400-chr2:64565923..64567451,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10187442	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1030407	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1030409	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1030410	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11125996	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11673882	0.81[ASN][1000 genomes]
rs11683866	0.81[CEU][hapmap];0.84[ASN][1000 genomes]
rs11883600	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1365474	0.86[ASN][1000 genomes]
rs1365475	0.80[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1365476	0.84[ASN][1000 genomes]
rs1426699	0.80[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs1426701	0.80[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs1426702	0.80[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1426703	0.85[ASN][1000 genomes]
rs1426712	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2059630	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs2263647	0.88[ASN][1000 genomes]
rs2278183	0.84[ASN][1000 genomes]
rs2278184	0.91[ASN][1000 genomes]
rs2555423	0.95[ASN][1000 genomes]
rs2555448	0.88[ASN][1000 genomes]
rs4485554	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4597511	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6546064	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6546065	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6714101	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6758664	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7561343	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7565077	0.83[ASN][1000 genomes]
rs7585084	0.81[ASN][1000 genomes]
rs7601803	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890478	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs919122	0.80[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs919123	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs919124	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs919125	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs919126	0.88[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs919127	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs930020	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9917300	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64549200-64555800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:64549400-64555200	Weak transcription	Placenta	Placenta
3	chr2:64549800-64555000	Weak transcription	Fetal Lung	lung
4	chr2:64552000-64555800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:64552600-64555600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:64552600-64555800	Enhancers	Fetal Thymus	thymus
7	chr2:64552800-64560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:64553200-64555600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:64553200-64557000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:64553400-64554800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:64553400-64555800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:64553400-64558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:64553800-64554800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:64553800-64554800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:64554200-64554800	Enhancers	Esophagus	oesophagus
16	chr2:64554400-64554800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr2:64554400-64554800	Enhancers	Fetal Brain Male	brain
18	chr2:64554400-64554800	Flanking Active TSS	Fetal Brain Female	brain
19	chr2:64554400-64554800	Enhancers	A549	lung
20	chr2:64554400-64555000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr2:64554400-64555000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:64554400-64555000	Active TSS	Rectal Smooth Muscle	rectum
23	chr2:64554400-64555200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:64554400-64555200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:64554400-64555200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr2:64554400-64555200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:64554400-64555200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:64554400-64555200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:64554400-64555200	Active TSS	Brain Substantia Nigra	brain
30	chr2:64554400-64555200	Active TSS	Colon Smooth Muscle	Colon
31	chr2:64554400-64555200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:64554400-64555200	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr2:64554400-64555400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:64554400-64555400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:64554400-64555400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr2:64554400-64555400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr2:64554400-64555400	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:64554400-64555600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:64554400-64555600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:64554400-64555600	Enhancers	Small Intestine	intestine
41	chr2:64554400-64555800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:64554400-64555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:64554400-64555800	Enhancers	Fetal Heart	heart
44	chr2:64554400-64555800	Enhancers	Fetal Stomach	stomach
45	chr2:64554400-64555800	Flanking Active TSS	GM12878-XiMat	blood
46	chr2:64554400-64556200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:64554400-64556400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:64554400-64556400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:64554400-64557800	Enhancers	Fetal Muscle Leg	muscle
50	chr2:64554400-64558400	Enhancers	Stomach Mucosa	stomach

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