Variant report

Variant	rs6867972
Chromosome Location	chr5:74015350-74015351
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:74013428-74015370	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74015011..74017827-chr5:74019863..74023018,4	K562	blood:

Variant related genes	Relation type
HEXB	TF binding region
ENSG00000207336	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs10515191	0.96[LWK][hapmap]
rs11948188	1.00[LWK][hapmap];0.81[MKK][hapmap]
rs15694	0.96[LWK][hapmap]
rs16872346	0.92[LWK][hapmap]
rs35119423	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6453075	0.93[LWK][hapmap]
rs6453077	0.96[LWK][hapmap]
rs6453084	0.93[LWK][hapmap]
rs6453087	0.93[LWK][hapmap]
rs6874609	0.96[LWK][hapmap]
rs820829	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers 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	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs6867972	NSA2	cis	Adipose Subcutaneous	GTEx
rs6867972	GFM2	cis	parietal	SCAN
rs6867972	NSA2	cis	Skin Sun Exposed Lower leg	GTEx
rs6867972	NSA2	cis	cerebellum	SCAN
rs6867972	NSA2	cis	Artery Tibial	GTEx
rs6867972	NSA2	cis	Muscle Skeletal	GTEx
rs6867972	NSA2	cis	Thyroid	GTEx
rs6867972	NSA2	cis	parietal	SCAN
rs6867972	NSA2	cis	Esophagus Mucosa	GTEx
rs6867972	NSA2	cis	Heart Left Ventricle	GTEx
rs6867972	NSA2	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73982000-74017400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:73982200-74020600	Weak transcription	Fetal Brain Male	brain
4	chr5:73983000-74017400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:73983000-74027000	Weak transcription	Fetal Heart	heart
6	chr5:73983200-74030200	Weak transcription	Small Intestine	intestine
7	chr5:73983400-74016000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:73987200-74017400	Weak transcription	Fetal Kidney	kidney
9	chr5:73988400-74021000	Weak transcription	Right Ventricle	heart
10	chr5:73990000-74016200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:73993400-74017400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:73993800-74019800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:73999600-74016000	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:73999800-74016000	Weak transcription	Thymus	Thymus
15	chr5:73999800-74017600	Weak transcription	Aorta	Aorta
16	chr5:73999800-74060800	Weak transcription	Pancreas	Pancrea
17	chr5:73999800-74062200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:74000000-74016000	Weak transcription	Lung	lung
19	chr5:74000000-74017600	Weak transcription	Psoas Muscle	Psoas
20	chr5:74000200-74016200	Weak transcription	Hela-S3	cervix
21	chr5:74002200-74016000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:74002400-74016000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:74002400-74016400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:74002400-74016800	Weak transcription	Brain Substantia Nigra	brain
25	chr5:74002600-74015800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:74002600-74015800	Weak transcription	Gastric	stomach
27	chr5:74002600-74016000	Weak transcription	Ovary	ovary
28	chr5:74002600-74016200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:74002600-74016200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:74002600-74017200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:74002600-74019600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:74002600-74030800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:74002600-74031800	Weak transcription	Esophagus	oesophagus
34	chr5:74002600-74041200	Weak transcription	Colonic Mucosa	Colon
35	chr5:74002600-74051600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:74002600-74061800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:74003400-74015800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:74008400-74028800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:74008400-74036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:74008400-74047800	Strong transcription	Placenta	Placenta
41	chr5:74008400-74060200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr5:74008400-74060200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr5:74008600-74044200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:74008800-74035200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:74008800-74036000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:74009800-74022200	Strong transcription	HMEC	breast
47	chr5:74010000-74020000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr5:74010000-74036200	Strong transcription	Liver	Liver
49	chr5:74010200-74022200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr5:74010200-74036000	Strong transcription	Duodenum Mucosa	Duodenum

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