Variant report

Variant	rs536013830
Chromosome Location	chr7:66310148-66310149
allele	-/CT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:464)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr7:66309648-66310294	A549	lung:	n/a	n/a
2	PAX5	chr7:66309835-66310194	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:66309480-66310747	PANC-1	pancreas:	n/a	n/a
4	ETS1	chr7:66309923-66310192	K562	blood:	n/a	n/a
5	MAZ	chr7:66309601-66310197	Hela-S3	cervix:	n/a	n/a
6	ATF1	chr7:66309595-66310629	K562	blood:	n/a	n/a
7	SMC3	chr7:66309542-66310369	Hela-S3	cervix:	n/a	n/a
8	JUND	chr7:66309783-66310199	HepG2	liver:	n/a	n/a
9	ELF1	chr7:66309759-66310205	A549	lung:	n/a	n/a
10	EP300	chr7:66309524-66310205	HepG2	liver:	n/a	n/a
11	ELF1	chr7:66309359-66310343	GM12878	blood:	n/a	chr7:66309503-66309515
12	SIX5	chr7:66309810-66310175	K562	blood:	n/a	n/a
13	RFX5	chr7:66309622-66310195	HepG2	liver:	n/a	n/a
14	BCLAF1	chr7:66309795-66310189	GM12878	blood:	n/a	n/a
15	TBP	chr7:66309730-66310265	GM12878	blood:	n/a	n/a
16	CBX3	chr7:66309394-66310496	K562	blood:	n/a	n/a
17	SIN3AK20	chr7:66309827-66310190	K562	blood:	n/a	n/a
18	TCF7L2	chr7:66309493-66310369	Hela-S3	cervix:	n/a	n/a
19	SIN3AK20	chr7:66309470-66310351	SK-N-SH	brain:	n/a	n/a
20	CHD2	chr7:66309519-66310251	K562	blood:	n/a	n/a
21	POLR2A	chr7:66309434-66310347	GM12892	blood:	n/a	n/a
22	ELF1	chr7:66309508-66310335	HCT-116	colon:	n/a	n/a
23	JUND	chr7:66309445-66310534	H1-hESC	embryonic stem cell:	n/a	n/a
24	NR2F2	chr7:66309573-66310478	K562	blood:	n/a	n/a
25	TBL1XR1	chr7:66309538-66310678	K562	blood:	n/a	n/a
26	TAF1	chr7:66309587-66310313	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:66309441-66310727	GM12892	blood:	n/a	n/a
28	RFX5	chr7:66309737-66310627	K562	blood:	n/a	n/a
29	CEBPB	chr7:66309811-66310557	A549	lung:	n/a	n/a
30	POLR2A	chr7:66309535-66310334	GM15510	blood:	n/a	n/a
31	REST	chr7:66309515-66310344	A549	lung:	n/a	n/a
32	MAX	chr7:66309476-66310385	K562	blood:	n/a	n/a
33	MAX	chr7:66309590-66310600	K562	blood:	n/a	n/a
34	GABPA	chr7:66309831-66310215	A549	lung:	n/a	n/a
35	POLR2A	chr7:66309484-66311210	GM12892	blood:	n/a	n/a
36	POLR2A	chr7:66309521-66310265	A549	lung:	n/a	n/a
37	STAT5A	chr7:66309527-66310496	K562	blood:	n/a	n/a
38	YY1	chr7:66309369-66310372	SK-N-SH	brain:	n/a	chr7:66309512-66309521
39	MAX	chr7:66309604-66310222	ECC-1	luminal epithelium:	n/a	n/a
40	USF2	chr7:66309647-66310184	GM12878	blood:	n/a	n/a
41	TAF1	chr7:66309578-66310344	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:66309325-66311241	K562	blood:	n/a	n/a
43	SIN3AK20	chr7:66309602-66310209	HepG2	liver:	n/a	n/a
44	POLR2A	chr7:66309226-66311225	K562	blood:	n/a	n/a
45	RCOR1	chr7:66309608-66310171	GM12878	blood:	n/a	n/a
46	GTF2F1	chr7:66309606-66310236	K562	blood:	n/a	n/a
47	POLR2A	chr7:66309569-66310267	GM18526	blood:	n/a	n/a
48	TAF1	chr7:66309378-66310252	H1-neurons	neurons:	n/a	n/a
49	CTCF	chr7:66310140-66310290	NHDF-neo	bronchial:	n/a	n/a
50	REST	chr7:66309476-66310244	H1-neurons	neurons:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66310072..66311941-chr7:66328440..66331303,2	MCF-7	breast:
2	chr13:111365549..111366101-chr7:66309637..66310176,2	Hela-S3	cervix:
3	chr7:66309584..66311542-chr7:66458819..66461691,3	K562	blood:
4	chr7:66308221..66311838-chr7:66312285..66316374,5	K562	blood:
5	chr7:66309510..66310213-chr7:66385838..66386579,2	MCF-7	breast:
6	chr7:66309053..66311838-chr7:66313170..66315306,3	K562	blood:
7	chr7:66145800..66148420-chr7:66309175..66311369,3	MCF-7	breast:
8	chr7:66307509..66310194-chr7:66460135..66463061,3	K562	blood:
9	chr7:66309154..66310879-chr7:66385975..66387792,2	MCF-7	breast:
10	chr7:66308191..66311276-chr7:66384066..66387492,7	MCF-7	breast:
11	chr7:65958036..65958685-chr7:66309752..66310594,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD7-2	chr7:66310051-66310369	NONHSAT121232
2	lnc-KCTD7-2	chr7:66310014-66311344	NONHSAT121231

No data

Variant related genes	Relation type
ENSG00000232546	TF binding region
GTF2IRD1P1	TF binding region
ENSG00000106609	Chromatin interaction
ENSG00000232546	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000126524	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000223473	Chromatin interaction
ENSG00000153487	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66308600-66310600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:66308600-66310800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:66308800-66310200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:66308800-66310200	Active TSS	Muscle Satellite Cultured Cells	--
5	chr7:66308800-66310200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:66308800-66310200	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr7:66308800-66310200	Active TSS	NH-A	brain
8	chr7:66308800-66310200	Active TSS	Osteobl	bone
9	chr7:66308800-66310400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:66308800-66310400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:66308800-66310400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:66308800-66310400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:66308800-66310400	Active TSS	NHEK	skin
14	chr7:66308800-66310600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:66308800-66310600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:66308800-66310600	Active TSS	Primary T cells from cord blood	blood
17	chr7:66308800-66310600	Active TSS	Colonic Mucosa	Colon
18	chr7:66308800-66310600	Active TSS	Fetal Heart	heart
19	chr7:66308800-66310600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:66308800-66310600	Active TSS	GM12878-XiMat	blood
21	chr7:66308800-66310600	Active TSS	NHDF-Ad	bronchial
22	chr7:66308800-66310800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:66308800-66310800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:66308800-66310800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:66308800-66311000	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr7:66308800-66311000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr7:66309000-66310200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:66309000-66310200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:66309000-66310200	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:66309000-66310200	Active TSS	Hela-S3	cervix
31	chr7:66309000-66310400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:66309000-66310400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:66309000-66310400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr7:66309000-66310400	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr7:66309000-66310400	Active TSS	Brain Angular Gyrus	brain
36	chr7:66309000-66310400	Active TSS	Brain Anterior Caudate	brain
37	chr7:66309000-66310400	Active TSS	Right Ventricle	heart
38	chr7:66309000-66310400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr7:66309000-66310400	Active TSS	Stomach Smooth Muscle	stomach
40	chr7:66309000-66310400	Active TSS	Thymus	Thymus
41	chr7:66309000-66310400	Active TSS	HMEC	breast
42	chr7:66309000-66310600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:66309000-66310600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:66309000-66310600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:66309000-66310600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:66309000-66310600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:66309000-66310600	Active TSS	Fetal Intestine Large	intestine
48	chr7:66309000-66310600	Active TSS	Psoas Muscle	Psoas
49	chr7:66309000-66310800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:66309000-66310800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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