Variant report

Variant	rs4750422
Chromosome Location	chr10:6459414-6459415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6459005..6459621-chr10:6720304..6720891,2	MCF-7	breast:
2	chr10:6458596..6459729-chr10:6709322..6710323,7	MCF-7	breast:
3	chr10:6458632..6459783-chr10:6689843..6690499,3	MCF-7	breast:
4	chr10:6458995..6459727-chr10:6709374..6710144,4	K562	blood:
5	chr10:6458664..6459503-chr10:6711186..6711839,2	MCF-7	breast:
6	chr10:6458508..6459634-chr10:6719834..6720871,6	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10508308	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs10752329	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10752330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10906504	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11258500	0.83[TSI][hapmap]
rs11258515	0.90[ASN][1000 genomes]
rs11258589	0.92[ASN][1000 genomes]
rs11258612	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11596750	0.89[JPT][hapmap]
rs12572911	0.88[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs12770464	0.84[ASN][1000 genomes]
rs17155850	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17155855	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2236380	0.89[JPT][hapmap]
rs34316142	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35935618	0.90[ASN][1000 genomes]
rs3793722	0.88[JPT][hapmap]
rs3793725	0.85[CEU][hapmap]
rs3793726	0.85[CEU][hapmap];0.94[TSI][hapmap]
rs4237436	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590467	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs631968	0.89[JPT][hapmap]
rs646613	0.87[EUR][1000 genomes]
rs681071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681604	0.83[TSI][hapmap]
rs686333	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688853	0.85[CEU][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71479777	0.90[ASN][1000 genomes]
rs7898408	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7918923	0.85[CEU][hapmap];0.94[TSI][hapmap]
rs961203	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9633784	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv430125	chr10:6322167-6477267	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1053177	chr10:6453307-6473114	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6452200-6468200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:6452600-6478600	Weak transcription	Brain Anterior Caudate	brain
3	chr10:6452600-6481400	Weak transcription	Brain Substantia Nigra	brain
4	chr10:6452800-6464400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:6452800-6464600	Weak transcription	Primary T cells from cord blood	blood
6	chr10:6453000-6465600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:6453200-6465000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr10:6453200-6469200	Weak transcription	Dnd41	blood
9	chr10:6453200-6470800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr10:6453400-6464200	Weak transcription	Fetal Thymus	thymus
11	chr10:6453400-6467800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:6453400-6469000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:6453600-6467600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr10:6454000-6472800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:6454200-6464800	Weak transcription	Thymus	Thymus
16	chr10:6456200-6496600	Weak transcription	Pancreas	Pancrea
17	chr10:6459200-6459800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr10:6459400-6459800	Enhancers	Fetal Muscle Leg	muscle

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