Variant report

Variant	rs62490313
Chromosome Location	chr7:150807003-150807004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:150806769-150807072	K562	blood:	n/a	n/a
2	ZNF263	chr7:150806480-150808544	HEK293-T-REx	kidney:	n/a	chr7:150807263-150807272
3	NR2F2	chr7:150806174-150807008	K562	blood:	n/a	n/a
4	CEBPB	chr7:150806712-150807284	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:150806942-150807131	Hela-S3	cervix:	n/a	n/a
6	CEBPD	chr7:150806697-150807235	K562	blood:	n/a	n/a
7	CEBPB	chr7:150806765-150807136	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPD	chr7:150806264-150807206	K562	blood:	n/a	n/a
9	SRF	chr7:150806469-150807010	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr7:150806631-150807292	A549	lung:	n/a	n/a
11	CEBPB	chr7:150806678-150807197	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr7:150806719-150807157	ECC-1	luminal epithelium:	n/a	n/a
13	SRF	chr7:150806469-150807055	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr7:150806713-150807763	K562	blood:	n/a	n/a
15	RCOR1	chr7:150806538-150808614	IMR90	lung:	n/a	n/a
16	POLR2A	chr7:150806262-150807136	K562	blood:	n/a	n/a
17	CEBPB	chr7:150806757-150807143	HepG2	liver:	n/a	n/a
18	CEBPB	chr7:150806306-150807260	K562	blood:	n/a	n/a
19	CEBPB	chr7:150806751-150807144	HepG2	liver:	n/a	n/a
20	SMC3	chr7:150806785-150808709	SK-N-SH	brain:	n/a	chr7:150808316-150808330
21	CEBPB	chr7:150806790-150807116	HepG2	liver:	n/a	n/a
22	CEBPB	chr7:150806687-150807213	MCF-7	breast:	n/a	n/a
23	JUN	chr7:150806273-150808674	K562	blood:	n/a	chr7:150808117-150808126
24	CEBPB	chr7:150806542-150807233	K562	blood:	n/a	n/a
25	CEBPB	chr7:150806641-150807164	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr7:150806567-150807146	IMR90	lung:	n/a	n/a
27	POLR2A	chr7:150807000-150807075	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr7:150806684-150807452	K562	blood:	n/a	n/a
29	CEBPB	chr7:150806755-150807144	A549	lung:	n/a	n/a
30	POLR2A	chr7:150806989-150807080	HepG2	liver:	n/a	n/a
31	CEBPD	chr7:150806840-150807053	HepG2	liver:	n/a	n/a
32	CEBPB	chr7:150806715-150807198	A549	lung:	n/a	n/a
33	CEBPB	chr7:150806826-150807057	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
2	chr7:150660145..150660725-chr7:150806826..150807380,2	K562	blood:
3	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:
4	chr7:150806359..150808651-chr7:150915357..150918189,2	K562	blood:
5	chr7:150806408..150808627-chr7:150809184..150811009,2	MCF-7	breast:
6	chr7:150802257..150803855-chr7:150805559..150808016,2	K562	blood:

No data

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34581141	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4725392	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS 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	45 gene(s)	inside rSNPs	diseases
14	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62490313	KCNH2	cis	brain	BrainEAC

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150786400-150808400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:150787400-150807800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:150788600-150807400	Weak transcription	Fetal Heart	heart
5	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
6	chr7:150789400-150807800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:150792600-150810200	Weak transcription	Esophagus	oesophagus
8	chr7:150793400-150808000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:150794000-150808800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:150794800-150807800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:150795000-150807800	Weak transcription	NHEK	skin
12	chr7:150797000-150807800	Weak transcription	Fetal Lung	lung
13	chr7:150797000-150808400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:150797400-150808000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:150797400-150810200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:150797600-150807800	Weak transcription	Left Ventricle	heart
17	chr7:150798400-150808000	Weak transcription	Gastric	stomach
18	chr7:150798600-150807200	Weak transcription	Right Ventricle	heart
19	chr7:150798800-150807600	Weak transcription	Brain Substantia Nigra	brain
20	chr7:150799000-150811200	Weak transcription	Right Atrium	heart
21	chr7:150799600-150808000	Weak transcription	Brain Anterior Caudate	brain
22	chr7:150801400-150807800	Weak transcription	Fetal Brain Female	brain
23	chr7:150802000-150807400	Weak transcription	Spleen	Spleen
24	chr7:150802200-150807200	Weak transcription	Colonic Mucosa	Colon
25	chr7:150802200-150807400	Weak transcription	Pancreas	Pancrea
26	chr7:150802200-150807800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:150802200-150807800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:150802200-150810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:150802200-150810200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:150802200-150810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:150802400-150807400	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:150802400-150807400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:150802400-150807800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:150802400-150808000	Weak transcription	Fetal Intestine Large	intestine
35	chr7:150802400-150808000	Weak transcription	HMEC	breast
36	chr7:150802400-150810600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
38	chr7:150802800-150807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:150802800-150810200	Weak transcription	HUVEC	blood vessel
40	chr7:150803200-150810000	Weak transcription	NH-A	brain
41	chr7:150803800-150810400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:150804000-150807800	Weak transcription	Liver	Liver
43	chr7:150804000-150808000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:150804000-150808000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:150804000-150810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:150804200-150807600	Weak transcription	Brain Angular Gyrus	brain
47	chr7:150804600-150808200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:150804600-150808200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:150804600-150808400	Enhancers	Adipose Nuclei	Adipose
50	chr7:150804800-150808000	Enhancers	HSMMtube	muscle

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