Variant report

Variant	rs248339
Chromosome Location	chr5:95203378-95203379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95201904..95203629-chr5:95296910..95298882,2	K562	blood:
2	chr5:95197433..95200134-chr5:95202863..95204651,3	K562	blood:
3	chr5:95201531..95203525-chr5:95206404..95208684,2	K562	blood:

Variant related genes	Relation type
ENSG00000251314	Chromatin interaction
ENSG00000250362	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11135439	1.00[CHB][hapmap]
rs154447	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154448	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs154449	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17463444	1.00[CHB][hapmap]
rs17464446	1.00[CHB][hapmap]
rs248338	0.95[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248341	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs248342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257683	1.00[CHB][hapmap]
rs6556889	1.00[CHB][hapmap]
rs6891719	1.00[CHB][hapmap]

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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
2	chr5:95195000-95206400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:95195000-95208400	Weak transcription	Ovary	ovary
4	chr5:95195200-95217400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:95195600-95206200	Weak transcription	Brain Anterior Caudate	brain
6	chr5:95197800-95204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:95198600-95206200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:95199000-95204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:95199000-95204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:95199200-95206000	Weak transcription	Fetal Heart	heart
11	chr5:95199400-95203400	Weak transcription	Fetal Thymus	thymus
12	chr5:95199400-95204000	Weak transcription	Primary T cells from cord blood	blood
13	chr5:95199400-95204000	Weak transcription	Dnd41	blood
14	chr5:95199400-95204400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:95199400-95204400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:95199400-95205000	Weak transcription	HUVEC	blood vessel
17	chr5:95199400-95205200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:95199400-95210000	Weak transcription	Right Ventricle	heart
19	chr5:95199600-95204600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:95200000-95206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:95200000-95206200	Weak transcription	Esophagus	oesophagus
22	chr5:95200000-95206200	Weak transcription	Psoas Muscle	Psoas
23	chr5:95200400-95205200	Weak transcription	Adipose Nuclei	Adipose
24	chr5:95200800-95205400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:95201000-95205400	Weak transcription	Liver	Liver
26	chr5:95201000-95205800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:95201200-95205200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:95201200-95205200	Weak transcription	Left Ventricle	heart
29	chr5:95201200-95205400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:95201200-95205800	Weak transcription	NHLF	lung
31	chr5:95201200-95206000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:95201200-95206000	Weak transcription	Colonic Mucosa	Colon
33	chr5:95201200-95206000	Weak transcription	Lung	lung
34	chr5:95201200-95206000	Weak transcription	Right Atrium	heart
35	chr5:95201200-95206000	Weak transcription	Small Intestine	intestine
36	chr5:95201400-95212200	Weak transcription	Placenta	Placenta
37	chr5:95201800-95203600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:95201800-95203800	Weak transcription	Brain Substantia Nigra	brain
39	chr5:95201800-95206000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:95201800-95206000	Weak transcription	Stomach Mucosa	stomach
41	chr5:95202000-95204000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr5:95202000-95206000	Weak transcription	Fetal Intestine Small	intestine
43	chr5:95202000-95206200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:95202000-95212600	Weak transcription	Gastric	stomach
45	chr5:95202200-95206600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:95202600-95204400	Weak transcription	Primary B cells from cord blood	blood
47	chr5:95202800-95205200	Weak transcription	Hela-S3	cervix
48	chr5:95202800-95217200	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:95203000-95205200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:95203000-95205200	Weak transcription	NH-A	brain

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