Variant report

Variant	rs11948128
Chromosome Location	chr5:127430304-127430305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127428694..127433227-chr5:127434862..127437524,4	K562	blood:
2	chr5:127428726..127433227-chr5:127434885..127438247,5	K562	blood:
3	chr5:127429085..127432949-chr5:127432984..127436984,4	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1112956	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17764730	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1993878	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2250127	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2409110	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2568928	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2617617	0.93[ASN][1000 genomes]
rs34576922	0.84[ASN][1000 genomes]
rs3749748	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs468438	1.00[AFR][1000 genomes]
rs6860245	0.84[ASN][1000 genomes]
rs6888037	0.87[ASN][1000 genomes]
rs6889311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7734927	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9327468	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1825644	chr5:127427533-127450581	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127421000-127431600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr5:127421200-127431400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:127421400-127436400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:127421400-127450200	Weak transcription	Fetal Thymus	thymus
5	chr5:127421600-127432400	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:127421600-127432400	Weak transcription	NHDF-Ad	bronchial
7	chr5:127421600-127432600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:127421600-127466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:127422000-127433200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:127422000-127434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:127422400-127431400	Weak transcription	HMEC	breast
12	chr5:127422800-127431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:127423000-127436600	Weak transcription	HSMMtube	muscle
14	chr5:127423600-127431200	Weak transcription	A549	lung
15	chr5:127423600-127432200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:127423600-127436400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:127423600-127444800	Weak transcription	Fetal Stomach	stomach
18	chr5:127423600-127494000	Weak transcription	K562	blood
19	chr5:127425800-127445000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:127426400-127430600	Strong transcription	Primary B cells from cord blood	blood
21	chr5:127426400-127431600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:127426800-127433400	Weak transcription	Small Intestine	intestine
23	chr5:127427400-127432400	Weak transcription	Fetal Intestine Large	intestine
24	chr5:127429200-127436000	Weak transcription	Left Ventricle	heart
25	chr5:127429600-127430800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr5:127429600-127431000	Weak transcription	Primary T cells from cord blood	blood
27	chr5:127429600-127431600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:127429600-127436000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:127429800-127430400	Weak transcription	Dnd41	blood
30	chr5:127429800-127436000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:127430000-127430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:127430000-127432400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:127430000-127441000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:127430200-127433600	Weak transcription	Psoas Muscle	Psoas

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