Variant report

Variant	rs7149011
Chromosome Location	chr14:21562560-21562561
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	POLR2A	chr14:21561378-21562854	HepG2	liver:	n/a	n/a
2	MAX	chr14:21562008-21563009	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:21556653-21563020	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:21562025-21562786	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:21561544-21562959	PFSK-1	brain:	n/a	n/a
6	TAF1	chr14:21562405-21562862	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr14:21562104-21562883	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr14:21562040-21562901	H1-neurons	neurons:	n/a	n/a
9	JUN	chr14:21562341-21562802	H1-hESC	embryonic stem cell:	n/a	chr14:21562727-21562736
10	MAX	chr14:21562107-21562943	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:21556869-21562813	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr14:21557689-21562818	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:21561989-21562887	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr14:21561798-21562782	PFSK-1	brain:	n/a	n/a
15	JUND	chr14:21562052-21562686	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr14:21562040-21562854	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:21561371-21562845	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr14:21562061-21562659	ECC-1	luminal epithelium:	n/a	n/a
19	REST	chr14:21562516-21562908	PFSK-1	brain:	n/a	chr14:21562895-21562905
20	SP1	chr14:21562066-21562883	H1-hESC	embryonic stem cell:	n/a	chr14:21562321-21562335 chr14:21562728-21562738 chr14:21562093-21562103 chr14:21562724-21562738 chr14:21562728-21562738 chr14:21562727-21562739 chr14:21562729-21562738 chr14:21562610-21562617 chr14:21562728-21562737 chr14:21562093-21562107 chr14:21562729-21562738 chr14:21562518-21562531 chr14:21562486-21562497 chr14:21562094-21562103 chr14:21562092-21562104 chr14:21562092-21562104 chr14:21562727-21562739
21	MXI1	chr14:21562089-21562845	H1-hESC	embryonic stem cell:	n/a	n/a
22	REST	chr14:21562094-21562991	PFSK-1	brain:	n/a	chr14:21562895-21562905
23	ATF2	chr14:21562233-21562698	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr14:21562105-21562600	ECC-1	luminal epithelium:	n/a	n/a
25	CTBP2	chr14:21562116-21562840	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chr14:21562391-21562836	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr14:21562060-21562842	H1-hESC	embryonic stem cell:	n/a	n/a
28	SP1	chr14:21562039-21562962	H1-hESC	embryonic stem cell:	n/a	chr14:21562321-21562335 chr14:21562891-21562903 chr14:21562728-21562738 chr14:21562891-21562903 chr14:21562093-21562103 chr14:21562724-21562738 chr14:21562728-21562738 chr14:21562727-21562739 chr14:21562729-21562738 chr14:21562610-21562617 chr14:21562728-21562737 chr14:21562093-21562107 chr14:21562729-21562738 chr14:21562518-21562531 chr14:21562486-21562497 chr14:21562094-21562103 chr14:21562092-21562104 chr14:21562092-21562104 chr14:21562727-21562739
29	SP4	chr14:21562245-21562835	H1-hESC	embryonic stem cell:	n/a	chr14:21562725-21562741 chr14:21562486-21562497 chr14:21562723-21562739
30	GTF2F1	chr14:21562511-21562818	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chr14:21561835-21563175	H1-neurons	neurons:	n/a	chr14:21562895-21562905
32	KAP1	chr14:21562407-21562675	U2OS	brain:	n/a	n/a
33	SIN3AK20	chr14:21562275-21562567	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr14:21559935-21562875	H1-hESC	embryonic stem cell:	n/a	n/a
35	TCF12	chr14:21562546-21562861	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3A	chr14:21562083-21562892	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZNF263	chr14:21562185-21562833	HEK293-T-REx	kidney:	n/a	n/a
38	MYC	chr14:21562081-21562892	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr14:21562256-21562979	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:21562179-21562683	SK-N-SH	brain:	n/a	n/a
41	TAF1	chr14:21562094-21562838	H1-neurons	neurons:	n/a	n/a
42	CHD2	chr14:21562213-21562842	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21558333..21560718-chr14:21562530..21564584,2	K562	blood:
2	chr14:21540755..21543423-chr14:21560916..21563307,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDRG2-4	chr14:21562550-21562607	NONHSAT035654

Variant related genes	Relation type
ZNF219	TF binding region
TMEM253	TF binding region
ENSG00000258714	Chromatin interaction
ENSG00000165801	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1057718	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs11629332	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432043	0.83[ASN][1000 genomes]
rs1243472	0.81[ASN][1000 genomes]
rs12880628	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1952151	0.82[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1958395	0.82[ASN][1000 genomes]
rs3827911	0.81[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs3827913	0.80[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4982405	0.81[ASN][1000 genomes]
rs4982406	0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7140850	0.89[ASN][1000 genomes]
rs7143633	0.86[JPT][hapmap]
rs943991	0.82[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv528337	chr14:21540863-21565189	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7149011	ANG	cis	cerebellum	SCAN
rs7149011	LRP10	cis	cerebellum	SCAN
rs7149011	RNF31	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21545200-21565600	Weak transcription	Psoas Muscle	Psoas
2	chr14:21553400-21564400	Weak transcription	Right Atrium	heart
3	chr14:21555800-21565600	Weak transcription	HSMMtube	muscle
4	chr14:21555800-21566200	Weak transcription	HSMM	muscle
5	chr14:21556200-21565400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:21556400-21565200	Weak transcription	Primary T cells from cord blood	blood
7	chr14:21556400-21565600	Weak transcription	Primary B cells from cord blood	blood
8	chr14:21556600-21565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:21556600-21565400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:21556800-21565200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:21558400-21565400	Weak transcription	Stomach Mucosa	stomach
12	chr14:21558600-21563400	Weak transcription	NHDF-Ad	bronchial
13	chr14:21558600-21563800	Weak transcription	Osteobl	bone
14	chr14:21558800-21566600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:21559800-21566600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:21560200-21563200	Enhancers	Fetal Brain Male	brain
17	chr14:21560200-21563800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:21560200-21565400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:21560200-21565400	Weak transcription	Aorta	Aorta
20	chr14:21560400-21565400	Enhancers	Fetal Heart	heart
21	chr14:21560600-21562600	Genic enhancers	Fetal Intestine Small	intestine
22	chr14:21560600-21562800	Enhancers	Placenta	Placenta
23	chr14:21560600-21565600	Enhancers	Brain Hippocampus Middle	brain
24	chr14:21560800-21562800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:21560800-21565800	Weak transcription	Small Intestine	intestine
26	chr14:21561000-21564400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:21561000-21565800	Weak transcription	Ovary	ovary
28	chr14:21561200-21562600	Weak transcription	Thymus	Thymus
29	chr14:21561200-21565000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:21561200-21565000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:21561200-21565200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr14:21561200-21565200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:21561200-21565400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:21561200-21565400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:21561200-21565400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:21561200-21565400	Weak transcription	Colonic Mucosa	Colon
37	chr14:21561200-21565400	Weak transcription	Dnd41	blood
38	chr14:21561200-21565600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:21561200-21565600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:21561400-21562800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr14:21561400-21562800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:21561400-21564000	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr14:21561400-21564600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:21561400-21565200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:21561600-21562800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:21561600-21562800	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:21561600-21563400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:21561600-21563600	Enhancers	Fetal Intestine Large	intestine
49	chr14:21561600-21563800	Enhancers	Fetal Muscle Leg	muscle
50	chr14:21561600-21563800	Weak transcription	Left Ventricle	heart

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