Variant report

Variant	rs2973585
Chromosome Location	chr5:126131130-126131131
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	chr5:126111639..126113760-chr5:126129200..126131238,2	MCF-7	breast:
2	chr5:126111624..126114477-chr5:126126554..126131251,6	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1510955	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2036844	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2271354	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2941662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941665	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2941667	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973584	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2973586	0.83[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2973599	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2973602	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2973603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2973888	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2973891	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62391737	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6895856	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs959573	0.81[CHB][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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv916675	chr5:126122436-126133000	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	nsv533306	chr5:126122436-126137162	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126114600-126142000	Weak transcription	Spleen	Spleen
3	chr5:126114600-126161600	Weak transcription	Ovary	ovary
4	chr5:126115000-126140400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:126115800-126131800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:126115800-126137400	Weak transcription	HSMM	muscle
7	chr5:126115800-126145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:126116000-126141600	Weak transcription	Fetal Stomach	stomach
9	chr5:126116400-126137000	Weak transcription	Primary T cells from cord blood	blood
10	chr5:126116400-126140000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:126116400-126140200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:126116400-126140200	Weak transcription	Thymus	Thymus
13	chr5:126116400-126141000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:126116400-126143400	Weak transcription	Primary B cells from cord blood	blood
15	chr5:126116600-126131400	Weak transcription	Fetal Intestine Small	intestine
16	chr5:126116600-126140000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:126116600-126147800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:126117000-126135000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:126117000-126140800	Weak transcription	Fetal Brain Female	brain
20	chr5:126117800-126141200	Weak transcription	Brain Germinal Matrix	brain
21	chr5:126118000-126137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:126121000-126132400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:126122600-126141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:126123000-126132000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:126123000-126132000	Weak transcription	Hela-S3	cervix
26	chr5:126124000-126133200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:126124000-126140200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:126124200-126140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:126124400-126135200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:126124400-126140400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:126124800-126133600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:126124800-126137000	Weak transcription	NHLF	lung
33	chr5:126125400-126133200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:126125400-126135600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:126125400-126135800	Weak transcription	K562	blood
36	chr5:126125400-126136000	Weak transcription	NHDF-Ad	bronchial
37	chr5:126125400-126137000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:126125400-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:126125600-126140400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr5:126126600-126133400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:126127800-126141400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:126128200-126135000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:126128400-126131200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr5:126128800-126145800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:126129000-126135600	Strong transcription	Dnd41	blood
46	chr5:126129000-126137000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:126129200-126131400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr5:126129200-126135400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:126129200-126137400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr5:126129200-126140000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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