Variant report

Variant	rs11574512
Chromosome Location	chr14:24608809-24608810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24608805-24608950	K562	blood:	n/a	n/a
2	RAD21	chr14:24608727-24609046	GM12878	blood:	n/a	n/a
3	CTCF	chr14:24608800-24608950	GM12871	blood:	n/a	n/a
4	HEY1	chr14:24604679-24609094	HepG2	liver:	n/a	n/a
5	CTCF	chr14:24608800-24608950	GM12870	blood:	n/a	n/a
6	POLR2A	chr14:24608795-24609034	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:24608428-24609128	GM12891	blood:	n/a	n/a
8	BHLHE40	chr14:24608780-24609019	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:24608236-24609056	GM12878	blood:	n/a	n/a
10	HEY1	chr14:24608202-24608934	HepG2	liver:	n/a	n/a
11	CTCF	chr14:24608780-24608930	GM12865	blood:	n/a	n/a
12	POLR2A	chr14:24608761-24609129	GM12891	blood:	n/a	n/a
13	POLR2A	chr14:24608581-24609167	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:24608187-24609171	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr14:24607178-24609111	K562	blood:	n/a	n/a
16	POLR2A	chr14:24608655-24608988	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr14:24608174-24609098	GM12892	blood:	n/a	n/a
18	CTCF	chr14:24608800-24608950	Caco-2	colon:	n/a	n/a
19	POLR2A	chr14:24608708-24608997	K562	blood:	n/a	n/a
20	CTCF	chr14:24608800-24608950	HRE	kidney:	n/a	n/a
21	PML	chr14:24608099-24609097	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:24605816-24609139	HepG2	liver:	n/a	n/a
23	CTCF	chr14:24608780-24608930	GM12873	blood:	n/a	n/a
24	CTCF	chr14:24608800-24608950	SAEC	small airway:	n/a	n/a
25	CTCF	chr14:24608800-24608950	GM12873	blood:	n/a	n/a
26	CTCF	chr14:24608780-24608930	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr14:24608724-24609090	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr14:24608633-24608984	HCT-116	colon:	n/a	n/a
29	POLR2A	chr14:24608709-24609087	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:24605707-24609596	HepG2	liver:	n/a	n/a
31	MTA3	chr14:24608701-24609224	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:24608187-24609122	MCF-7	breast:	n/a	n/a
33	CTCF	chr14:24608800-24608950	GM12878	blood:	n/a	n/a
34	CTCF	chr14:24608800-24609090	GM12867	blood:	n/a	n/a
35	RUNX3	chr14:24608721-24609094	GM12878	blood:	n/a	n/a
36	RUNX3	chr14:24608680-24609114	GM12878	blood:	n/a	n/a
37	POLR2A	chr14:24604692-24609130	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:24604663-24609270	HepG2	liver:	n/a	n/a
39	POLR2A	chr14:24608010-24609076	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr14:24604568-24609088	GM12891	blood:	n/a	n/a
41	POLR2A	chr14:24608344-24609122	K562	blood:	n/a	n/a
42	CTCF	chr14:24608800-24608950	SK-N-SH_RA	brain:	n/a	n/a
43	RAD21	chr14:24608737-24609096	HepG2	liver:	n/a	n/a
44	CTCF	chr14:24608780-24608930	BE2_C	brain:	n/a	n/a
45	POLR2A	chr14:24608411-24609080	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr14:24604800-24609142	GM12878	blood:	n/a	n/a
47	POLR2A	chr14:24604863-24609298	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:24608219-24609179	GM12892	blood:	n/a	n/a
49	POLR2A	chr14:24608465-24609093	GM12892	blood:	n/a	n/a
50	POLR2A	chr14:24608161-24609086	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24519207..24521902-chr14:24608488..24612189,3	MCF-7	breast:
2	chr14:24608474..24613065-chr14:24662221..24666729,4	K562	blood:
3	chr14:24608723..24612009-chr14:24681529..24684015,3	K562	blood:
4	chr14:24581290..24596396-chr14:24599989..24617678,100	MCF-7	breast:
5	chr14:24560776..24564630-chr14:24604018..24609119,8	MCF-7	breast:
6	chr14:24607940..24610732-chr21:40718347..40720759,2	MCF-7	breast:
7	chr14:24581146..24586451-chr14:24599665..24612678,16	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM158A-1	chr14:24608754-24609217	NONHSAT035980

No data

Variant related genes	Relation type
EMC9	TF binding region
ENSG00000100897	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000259371	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10132601	1.00[CHB][hapmap]
rs10138006	1.00[CEU][hapmap]
rs11620720	1.00[CEU][hapmap]
rs11622481	1.00[CHB][hapmap]
rs17101262	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs17101962	1.00[CHB][hapmap]
rs2229462	1.00[MEX][hapmap]
rs2229464	1.00[CHB][hapmap]
rs2229660	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs2295305	1.00[MEX][hapmap]
rs2516564	1.00[CHB][hapmap]
rs2855009	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs4981500	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7146599	1.00[CHB][hapmap]
rs7147300	1.00[CEU][hapmap]

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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24606000-24609400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr14:24606200-24609000	Genic enhancers	Spleen	Spleen
3	chr14:24606200-24609800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:24606400-24609200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:24606400-24609200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:24606400-24609200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:24606400-24609200	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr14:24606400-24609200	Genic enhancers	Fetal Muscle Leg	muscle
9	chr14:24606400-24609400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:24606400-24609400	Transcr. at gene 5' and 3'	HepG2	liver
11	chr14:24606600-24609000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:24606600-24609000	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr14:24606600-24609000	Genic enhancers	Esophagus	oesophagus
14	chr14:24606600-24609000	Genic enhancers	Gastric	stomach
15	chr14:24606600-24609000	Genic enhancers	Lung	lung
16	chr14:24606600-24609200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:24606600-24609200	Genic enhancers	Liver	Liver
18	chr14:24606600-24609200	Strong transcription	Fetal Kidney	kidney
19	chr14:24606600-24609200	Genic enhancers	Right Ventricle	heart
20	chr14:24606600-24609600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
21	chr14:24606800-24609000	Strong transcription	Colon Smooth Muscle	Colon
22	chr14:24606800-24609000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:24606800-24609000	Strong transcription	HSMMtube	muscle
24	chr14:24606800-24609200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:24606800-24609200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr14:24606800-24609200	Genic enhancers	Fetal Intestine Large	intestine
27	chr14:24607000-24609000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:24607000-24609000	Strong transcription	Rectal Smooth Muscle	rectum
29	chr14:24607000-24609400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:24607400-24609000	Strong transcription	Aorta	Aorta
31	chr14:24607600-24609000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:24607600-24610000	Weak transcription	Stomach Mucosa	stomach
33	chr14:24607800-24609000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:24607800-24609200	Genic enhancers	Brain Anterior Caudate	brain
35	chr14:24608000-24609000	Genic enhancers	Placenta	Placenta
36	chr14:24608000-24609200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:24608000-24609200	Weak transcription	K562	blood
38	chr14:24608200-24609000	Enhancers	Fetal Heart	heart
39	chr14:24608200-24609000	Genic enhancers	Left Ventricle	heart
40	chr14:24608200-24609000	Enhancers	Psoas Muscle	Psoas
41	chr14:24608200-24609200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:24608400-24609000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr14:24608400-24609000	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:24608400-24609000	Genic enhancers	Primary hematopoietic stem cells	blood
45	chr14:24608400-24609000	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr14:24608400-24609000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:24608400-24609000	Genic enhancers	Small Intestine	intestine
48	chr14:24608400-24609200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:24608400-24609200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:24608400-24609200	Genic enhancers	Fetal Thymus	thymus

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