Variant report

Variant	rs11951174
Chromosome Location	chr5:74350535-74350536
allele	A/G
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	TAF1	chr5:74348875-74350581	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr5:74349194-74350559	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:74349465-74350678	SK-N-MC	brain:	n/a	n/a
4	MAX	chr5:74349985-74350581	H1-hESC	embryonic stem cell:	n/a	chr5:74350503-74350512
5	TAF7	chr5:74347951-74350547	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:74349236-74350677	SK-N-MC	brain:	n/a	n/a
7	USF1	chr5:74350238-74350637	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr5:74350203-74350578	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr5:74350013-74350679	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr5:74349073-74350549	IMR90	lung:	n/a	n/a
11	POLR2A	chr5:74340910-74352626	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr5:74349637-74350554	H1-hESC	embryonic stem cell:	n/a	chr5:74350503-74350512
13	POLR2A	chr5:74348072-74351062	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74349473..74351177-chr5:74531614..74533984,2	MCF-7	breast:
2	chr5:74349068..74351249-chr5:74356524..74358401,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250889	TF binding region
ENSG00000145700	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12515285	0.96[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	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv598654	chr5:74345369-74351228	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3421723	chr5:74346596-74351294	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv3439111	chr5:74348021-74350569	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv598669	chr5:74348841-74351228	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74347000-74350800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:74347600-74350600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:74347600-74350600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr5:74348000-74350600	Active TSS	Psoas Muscle	Psoas
5	chr5:74348000-74351000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr5:74348800-74350600	Active TSS	Colonic Mucosa	Colon
7	chr5:74349200-74350800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:74349600-74350600	Flanking Active TSS	Osteobl	bone
9	chr5:74349600-74350800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr5:74349800-74350600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr5:74349800-74350600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:74349800-74350600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:74349800-74350600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr5:74349800-74350600	Flanking Active TSS	NHEK	skin
15	chr5:74349800-74350800	Flanking Active TSS	Thymus	Thymus
16	chr5:74349800-74351000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:74349800-74351000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr5:74349800-74351000	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr5:74349800-74351200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr5:74350000-74350600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:74350000-74350600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr5:74350000-74350600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr5:74350000-74350600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:74350000-74350600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:74350000-74350600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:74350000-74350600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr5:74350000-74350600	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr5:74350000-74350600	Enhancers	Spleen	Spleen
29	chr5:74350000-74350600	Flanking Active TSS	NHLF	lung
30	chr5:74350000-74350800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:74350000-74350800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:74350000-74350800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr5:74350000-74350800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:74350000-74350800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr5:74350000-74350800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr5:74350000-74350800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr5:74350000-74351000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr5:74350000-74351000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr5:74350000-74351400	Weak transcription	Hela-S3	cervix
40	chr5:74350200-74350600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:74350200-74350600	Enhancers	Primary hematopoietic stem cells	blood
42	chr5:74350200-74350600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:74350200-74350600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr5:74350200-74350600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:74350200-74350600	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr5:74350200-74350600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr5:74350200-74350600	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr5:74350200-74350600	Flanking Active TSS	Fetal Stomach	stomach
49	chr5:74350200-74350600	Flanking Active TSS	Stomach Mucosa	stomach
50	chr5:74350200-74350600	Flanking Active TSS	NHDF-Ad	bronchial

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