Variant report

Variant	rs4671086
Chromosome Location	chr2:64555210-64555211
allele	A/C/T
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	chr2:64276518..64277484-chr2:64554739..64555702,3	MCF-7	breast:
3	chr2:64488474..64490275-chr2:64553073..64555333,2	K562	blood:
4	chr2:64554284..64556297-chr2:64556572..64559001,2	MCF-7	breast:
5	chr2:64553992..64556400-chr2:64565923..64567451,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10182618	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10203643	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs10865345	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11673882	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11682772	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11683866	1.00[CHB][hapmap]
rs1365475	1.00[CHB][hapmap]
rs1426698	0.86[CHB][hapmap]
rs1426699	1.00[CHB][hapmap]
rs1426701	1.00[CHB][hapmap]
rs1426702	1.00[CHB][hapmap]
rs1974976	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2059630	1.00[CHB][hapmap]
rs2162380	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2278184	0.83[ASN][1000 genomes]
rs4671561	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4671562	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671563	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs66506765	0.81[AMR][1000 genomes]
rs6724171	0.81[AMR][1000 genomes]
rs6737527	0.81[AMR][1000 genomes]
rs7565077	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7585084	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs890478	0.87[JPT][hapmap]
rs919122	1.00[CHB][hapmap]
rs919126	1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs919127	0.87[JPT][hapmap]

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:96 , 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	chr2:64552000-64555800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:64552600-64555600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:64552600-64555800	Enhancers	Fetal Thymus	thymus
5	chr2:64552800-64560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:64553200-64555600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:64553200-64557000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:64553400-64555800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:64553400-64558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:64554400-64555400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:64554400-64555400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:64554400-64555400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr2:64554400-64555400	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr2:64554400-64555400	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:64554400-64555600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr2:64554400-64555600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:64554400-64555600	Enhancers	Small Intestine	intestine
18	chr2:64554400-64555800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:64554400-64555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:64554400-64555800	Enhancers	Fetal Heart	heart
21	chr2:64554400-64555800	Enhancers	Fetal Stomach	stomach
22	chr2:64554400-64555800	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:64554400-64556200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:64554400-64556400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:64554400-64556400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:64554400-64557800	Enhancers	Fetal Muscle Leg	muscle
27	chr2:64554400-64558400	Enhancers	Stomach Mucosa	stomach
28	chr2:64554600-64555400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr2:64554600-64555400	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr2:64554600-64555400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr2:64554600-64555400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:64554600-64555400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:64554600-64555400	Enhancers	Lung	lung
34	chr2:64554600-64555400	Enhancers	Dnd41	blood
35	chr2:64554600-64555400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr2:64554600-64555800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:64554600-64555800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:64554600-64555800	Enhancers	Spleen	Spleen
39	chr2:64554600-64556400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:64554600-64556600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:64554600-64557800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:64554600-64557800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:64554600-64559400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:64554800-64555600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:64554800-64555600	Flanking Active TSS	Fetal Brain Male	brain
46	chr2:64554800-64555800	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:64554800-64555800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr2:64554800-64556000	Enhancers	NHDF-Ad	bronchial
49	chr2:64554800-64557000	Weak transcription	Esophagus	oesophagus
50	chr2:64554800-64557400	Weak transcription	Fetal Kidney	kidney

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