Variant report

Variant	rs532101812
Chromosome Location	chr7:66310517-66310518
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:66309480-66310747	PANC-1	pancreas:	n/a	n/a
2	ATF1	chr7:66309595-66310629	K562	blood:	n/a	n/a
3	POLR2A	chr7:66310418-66311445	K562	blood:	n/a	n/a
4	JUND	chr7:66309445-66310534	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBL1XR1	chr7:66309538-66310678	K562	blood:	n/a	n/a
6	POLR2A	chr7:66309441-66310727	GM12892	blood:	n/a	n/a
7	RFX5	chr7:66309737-66310627	K562	blood:	n/a	n/a
8	CEBPB	chr7:66309811-66310557	A549	lung:	n/a	n/a
9	MAX	chr7:66309590-66310600	K562	blood:	n/a	n/a
10	POLR2A	chr7:66309484-66311210	GM12892	blood:	n/a	n/a
11	POLR2A	chr7:66309325-66311241	K562	blood:	n/a	n/a
12	POLR2A	chr7:66309226-66311225	K562	blood:	n/a	n/a
13	TEAD4	chr7:66309649-66310637	K562	blood:	n/a	n/a
14	POLR2A	chr7:66310504-66310551	ProgFib	skin:	n/a	n/a
15	POLR2A	chr7:66309588-66310940	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr7:66309522-66310742	K562	blood:	n/a	n/a
17	POLR2A	chr7:66309425-66310919	NB4	blood:	n/a	n/a
18	HEY1	chr7:66309393-66311646	K562	blood:	n/a	n/a
19	JUN	chr7:66309359-66310603	K562	blood:	n/a	chr7:66309970-66309983
20	TBP	chr7:66309482-66310677	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:66309435-66310560	Raji	blood:	n/a	n/a
22	SIX5	chr7:66309596-66310528	A549	lung:	n/a	n/a
23	TAF1	chr7:66309281-66310538	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr7:66309715-66310705	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:66309387-66311373	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:66308321-66312999	H1-hESC	embryonic stem cell:	n/a	n/a
27	PML	chr7:66309377-66310645	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:66309554-66310929	K562	blood:	n/a	n/a
29	POLR2A	chr7:66309244-66311040	K562	blood:	n/a	n/a
30	NR2F2	chr7:66309099-66311205	K562	blood:	n/a	n/a
31	POLR2A	chr7:66309154-66311361	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr7:66309524-66310908	K562	blood:	n/a	n/a
33	MXI1	chr7:66309121-66310911	SK-N-SH	brain:	n/a	n/a
34	TRIM28	chr7:66309572-66310747	K562	blood:	n/a	n/a
35	POLR2A	chr7:66309550-66310764	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:66309415-66311591	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAZ	chr7:66309349-66311018	IMR90	lung:	n/a	n/a
38	POLR2A	chr7:66309250-66310594	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr7:66309501-66310667	GM12891	blood:	n/a	n/a
40	POLR2A	chr7:66309369-66310920	PBDE	blood:	n/a	n/a
41	MYC	chr7:66309306-66310701	K562	blood:	n/a	n/a
42	ESRRA	chr7:66309434-66310839	GM12878	blood:	n/a	n/a
43	MYC	chr7:66309303-66310586	K562	blood:	n/a	n/a
44	TEAD4	chr7:66309488-66310608	K562	blood:	n/a	n/a
45	POLR2A	chr7:66309394-66310884	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr7:66309582-66311049	IMR90	lung:	n/a	n/a
47	POLR2A	chr7:66308488-66312871	H1-hESC	embryonic stem cell:	n/a	n/a
48	MXI1	chr7:66309499-66310597	GM12878	blood:	n/a	n/a
49	MTA3	chr7:66309313-66310538	GM12878	blood:	n/a	n/a
50	REST	chr7:66309105-66310701	H1-neurons	neurons:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66310072..66311941-chr7:66328440..66331303,2	MCF-7	breast:
2	chr7:66309584..66311542-chr7:66458819..66461691,3	K562	blood:
3	chr7:66308221..66311838-chr7:66312285..66316374,5	K562	blood:
4	chr7:66305123..66307515-chr7:66310267..66312023,2	K562	blood:
5	chr7:66310160..66312004-chr7:66384558..66386513,2	K562	blood:
6	chr7:66309053..66311838-chr7:66313170..66315306,3	K562	blood:
7	chr7:66145800..66148420-chr7:66309175..66311369,3	MCF-7	breast:
8	chr7:66309154..66310879-chr7:66385975..66387792,2	MCF-7	breast:
9	chr7:66308191..66311276-chr7:66384066..66387492,7	MCF-7	breast:
10	chr7:65958036..65958685-chr7:66309752..66310594,2	Hela-S3	cervix:

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

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

No data

Variant related genes	Relation type
ENSG00000232546	TF binding region
GTF2IRD1P1	TF binding region
ENSG00000223473	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000232546	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000126524	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	chr7:66308800-66310600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:66308800-66310600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:66308800-66310600	Active TSS	Primary T cells from cord blood	blood
6	chr7:66308800-66310600	Active TSS	Colonic Mucosa	Colon
7	chr7:66308800-66310600	Active TSS	Fetal Heart	heart
8	chr7:66308800-66310600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:66308800-66310600	Active TSS	GM12878-XiMat	blood
10	chr7:66308800-66310600	Active TSS	NHDF-Ad	bronchial
11	chr7:66308800-66310800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:66308800-66310800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:66308800-66310800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr7:66308800-66311000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:66308800-66311000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr7:66309000-66310600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:66309000-66310600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:66309000-66310600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:66309000-66310600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:66309000-66310600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:66309000-66310600	Active TSS	Fetal Intestine Large	intestine
22	chr7:66309000-66310600	Active TSS	Psoas Muscle	Psoas
23	chr7:66309000-66310800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:66309000-66310800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:66309000-66310800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:66309000-66310800	Active TSS	Fetal Brain Female	brain
27	chr7:66309000-66310800	Active TSS	A549	lung
28	chr7:66309000-66311000	Active TSS	HSMM	muscle
29	chr7:66309200-66310600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr7:66309200-66310600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:66309200-66310600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:66309200-66310600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:66309200-66310600	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr7:66309200-66310600	Active TSS	Aorta	Aorta
35	chr7:66309200-66310600	Active TSS	Brain Cingulate Gyrus	brain
36	chr7:66309200-66310600	Active TSS	Brain Hippocampus Middle	brain
37	chr7:66309200-66310600	Active TSS	Colon Smooth Muscle	Colon
38	chr7:66309200-66310600	Active TSS	Gastric	stomach
39	chr7:66309200-66310600	Active TSS	Left Ventricle	heart
40	chr7:66309200-66310600	Active TSS	Lung	lung
41	chr7:66309200-66310600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr7:66309200-66310600	Active TSS	NHLF	lung
43	chr7:66309200-66310800	Active TSS	Fetal Intestine Small	intestine
44	chr7:66309200-66310800	Active TSS	Ovary	ovary
45	chr7:66309200-66310800	Active TSS	K562	blood
46	chr7:66309400-66310600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:66309400-66310600	Bivalent/Poised TSS	HepG2	liver
48	chr7:66309600-66310600	Active TSS	Liver	Liver
49	chr7:66309800-66310600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:66309800-66310800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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