Variant report

Variant	rs5030450
Chromosome Location	chr11:36521634-36521635
allele	C/T
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	FOS	chr11:36521616-36522611	HUVEC	blood vessel:	n/a	chr11:36522208-36522219
2	POLR2A	chr11:36521632-36522417	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:36515412..36518304-chr11:36519171..36521686,2	K562	blood:
2	chr11:36520913..36523596-chr11:36531535..36533082,2	K562	blood:
3	chr11:36520918..36523181-chr11:36525815..36527986,2	K562	blood:
4	chr11:36519978..36521868-chr11:36530889..36533233,2	MCF-7	breast:

Variant related genes	Relation type
TRAF6	TF binding region
ENSG00000166349	Chromatin interaction
ENSG00000175104	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10501153	1.00[YRI][hapmap]
rs331448	1.00[YRI][hapmap]
rs331483	1.00[YRI][hapmap]
rs5030458	1.00[YRI][hapmap]
rs7929961	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
2	chr11:36500800-36522400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:36502200-36523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:36504400-36524000	Weak transcription	Stomach Mucosa	stomach
5	chr11:36504800-36521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:36504800-36522800	Strong transcription	Liver	Liver
7	chr11:36504800-36523000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:36505400-36523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:36506600-36523200	Strong transcription	Placenta	Placenta
10	chr11:36507400-36524800	Weak transcription	Psoas Muscle	Psoas
11	chr11:36507600-36521800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:36508800-36530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:36510000-36523200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:36510000-36525600	Strong transcription	Fetal Thymus	thymus
15	chr11:36510200-36523400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:36510400-36521800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:36510400-36523000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:36510400-36523000	Strong transcription	Adipose Nuclei	Adipose
19	chr11:36510400-36523800	Strong transcription	Primary B cells from cord blood	blood
20	chr11:36510600-36524600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:36510600-36525400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:36510800-36523200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:36511000-36526000	Strong transcription	Dnd41	blood
24	chr11:36511800-36523400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:36512200-36521800	Weak transcription	Aorta	Aorta
26	chr11:36512200-36530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:36512400-36523400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:36512400-36525000	Weak transcription	Spleen	Spleen
29	chr11:36512400-36529800	Weak transcription	Colonic Mucosa	Colon
30	chr11:36513800-36524200	Weak transcription	Pancreas	Pancrea
31	chr11:36513800-36529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:36513800-36530000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:36513800-36530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:36513800-36530400	Weak transcription	Lung	lung
35	chr11:36514000-36521800	Weak transcription	Gastric	stomach
36	chr11:36514000-36522000	Weak transcription	Right Ventricle	heart
37	chr11:36514000-36529600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:36514000-36530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:36514000-36530800	Weak transcription	Small Intestine	intestine
40	chr11:36514400-36521800	Weak transcription	HepG2	liver
41	chr11:36515400-36523200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:36516000-36523000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:36516400-36521800	Strong transcription	NHDF-Ad	bronchial
44	chr11:36516600-36522400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:36516800-36522200	Strong transcription	K562	blood
46	chr11:36516800-36524000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:36517400-36523800	Strong transcription	Primary T cells from cord blood	blood
48	chr11:36518000-36521800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:36518000-36522800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:36518000-36523600	Strong transcription	Rectal Mucosa Donor 29	rectum

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