Variant report

Variant	rs9327504
Chromosome Location	chr5:128453212-128453213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:128451572..128454294-chr5:128458058..128461292,3	K562	blood:
2	chr5:128446074..128449776-chr5:128450937..128454358,4	K562	blood:
3	chr5:128451359..128453698-chr5:128795790..128798688,2	MCF-7	breast:
4	chr5:128448676..128453642-chr5:128454488..128460392,5	K562	blood:

Variant related genes	Relation type
ENSG00000145808	Chromatin interaction
ENSG00000249421	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10075587	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738204	0.82[ASN][1000 genomes]
rs11740924	0.82[ASN][1000 genomes]
rs11749536	1.00[ASN][1000 genomes]
rs13356950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14822	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232813	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58542681	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs976607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885249	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882849	chr5:128446692-128501738	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128431400-128457400	Weak transcription	Lung	lung
2	chr5:128431600-128454200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:128432200-128454600	Weak transcription	Aorta	Aorta
4	chr5:128433400-128453800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:128434000-128455600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:128434000-128458400	Weak transcription	Esophagus	oesophagus
7	chr5:128434400-128454200	Weak transcription	Colonic Mucosa	Colon
8	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:128434800-128461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
11	chr5:128439600-128456200	Weak transcription	Spleen	Spleen
12	chr5:128443000-128459800	Weak transcription	Fetal Kidney	kidney
13	chr5:128443600-128454400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:128443600-128454400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:128444000-128453600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:128444000-128453800	Weak transcription	Thymus	Thymus
17	chr5:128444000-128454200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:128444000-128455000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:128444000-128460200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:128444000-128461600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:128444000-128461600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:128444000-128462000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:128444000-128462400	Weak transcription	Gastric	stomach
24	chr5:128444600-128461600	Weak transcription	Fetal Intestine Small	intestine
25	chr5:128445000-128455400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:128446400-128456000	Weak transcription	Ovary	ovary
27	chr5:128446800-128454400	Weak transcription	Brain Anterior Caudate	brain
28	chr5:128447200-128454200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:128447400-128461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:128447600-128455600	Weak transcription	GM12878-XiMat	blood
31	chr5:128448400-128454200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:128448600-128453800	Weak transcription	Fetal Lung	lung
33	chr5:128448600-128454400	Weak transcription	NHEK	skin
34	chr5:128448800-128461400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:128448800-128461600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:128448800-128461600	Weak transcription	Dnd41	blood
37	chr5:128449000-128454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:128449000-128461400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr5:128449200-128453800	Weak transcription	HepG2	liver
40	chr5:128449200-128453800	Weak transcription	K562	blood
41	chr5:128449400-128457000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:128449400-128461200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:128449600-128460200	Weak transcription	Primary B cells from cord blood	blood
44	chr5:128452000-128460000	Weak transcription	Liver	Liver
45	chr5:128452400-128454200	Strong transcription	Adipose Nuclei	Adipose
46	chr5:128452600-128453400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr5:128452600-128453400	Strong transcription	Left Ventricle	heart
48	chr5:128452800-128453400	Strong transcription	Fetal Stomach	stomach
49	chr5:128452800-128454800	Strong transcription	Primary T cells from cord blood	blood
50	chr5:128453000-128453800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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