Variant report

Variant	rs1180620
Chromosome Location	chr7:6010086-6010087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6009707-6012277	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:6009975-6010441	A549	lung:	n/a	n/a
3	TCF3	chr7:6010086-6010494	GM12878	blood:	n/a	chr7:6010394-6010408 chr7:6010396-6010406
4	TAF1	chr7:6009961-6010431	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:6010068-6010139	MCF-7	breast:	n/a	n/a
6	POLR2A	chr7:6009761-6010288	MCF-7	breast:	n/a	n/a
7	POLR2A	chr7:6009974-6010506	GM12878	blood:	n/a	n/a
8	PAX5	chr7:6010084-6010457	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:6009731-6012275	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:6009743-6011880	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr7:6009722-6011326	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr7:6009890-6010774	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:6009818-6012210	GM12891	blood:	n/a	n/a
14	POLR2A	chr7:6009977-6010498	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:6009891-6010297	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr7:6009888-6010146	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:6009824-6010611	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:6009039-6012387	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:6009788-6010797	GM12891	blood:	n/a	n/a
20	POLR2A	chr7:6009766-6010811	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:6009535-6010739	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:6009772-6010729	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr7:6010069-6010164	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:6010036-6010439	A549	lung:	n/a	n/a
25	POLR2A	chr7:6009896-6011361	GM12892	blood:	n/a	n/a
26	POLR2A	chr7:6009593-6010810	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr7:6010002-6010499	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr7:6010006-6010425	A549	lung:	n/a	n/a
29	MYC	chr7:6010082-6010150	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr7:6010051-6010444	A549	lung:	n/a	n/a
31	FOSL2	chr7:6010019-6010528	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:6009994-6010490	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr7:6009000-6010715	HepG2	liver:	n/a	n/a
34	POLR2A	chr7:6009692-6011332	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6010084-6010134	HCM	heart:	n/a
2	chr7:6010084-6010134	Hela-S3	cervix:	n/a
3	chr7:6010084-6010134	RPTEC	kidney:	n/a
4	chr7:6010084-6010134	AG09319	gingival:	n/a
5	chr7:6010084-6010134	HCPEpiC	choroid plexus:	n/a
6	chr7:6010084-6010134	HAEpiC	amniotic membrane:	n/a
7	chr7:6010084-6010134	LNCaP	prostate:	n/a
8	chr7:6010084-6010134	ECC-1	luminal epithelium:	n/a
9	chr7:6010084-6010134	SKMC	muscle:	n/a
10	chr7:6010084-6010134	MCF10A-Er-Src	breast:	n/a
11	chr7:6010084-6010134	BE2_C	brain:	n/a
12	chr7:6010084-6010134	HRCEpiC	kidney:	n/a
13	chr7:6010084-6010134	HIPEpiC	eye:	n/a
14	chr7:6010084-6010134	HCF	heart:	n/a
15	chr7:6010084-6010134	SK-N-MC	brain:	n/a
16	chr7:6010084-6010134	HEK293	kidney:	embryo
17	chr7:6010084-6010134	SK-N-SH	brain:	n/a
18	chr7:6010084-6010134	AG04449	skin:	fetal
19	chr7:6010084-6010134	H1-hESC	embryonic stem cell:	embryo
20	chr7:6010084-6010134	GM12891	blood:	n/a
21	chr7:6010084-6010134	AoSMC	blood vessel:	n/a
22	chr7:6010084-6010134	GM19239	blood:	n/a
23	chr7:6010084-6010134	AG10803	skin:	n/a
24	chr7:6010084-6010134	AG09309	skin:	n/a
25	chr7:6010084-6010134	MCF-7	breast:	n/a
26	chr7:6010084-6010134	NB4	blood:	n/a
27	chr7:6010084-6010134	NHBE	bronchial:	n/a
28	chr7:6010084-6010134	K562	blood:	n/a
29	chr7:6010084-6010134	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:6010084-6010134	NT2-D1	testis:	n/a
31	chr7:6010084-6010134	SAEC	small airway:	n/a
32	chr7:6010084-6010134	BJ	skin:	n/a
33	chr7:6010084-6010134	ProgFib	skin:	n/a
34	chr7:6010084-6010134	GM12892	blood:	n/a
35	chr7:6010084-6010134	SK-N-SH_RA	brain:	n/a
36	chr7:6010084-6010134	IMR90	lung:	fetal
37	chr7:6010084-6010134	HNPCEpiC	eye:	n/a
38	chr7:6010084-6010134	PrEC	prostate:	n/a
39	chr7:6010084-6010134	U87	brain:	n/a
40	chr7:6010084-6010134	HL-60	blood:	n/a
41	chr7:6010084-6010134	HRE	kidney:	n/a
42	chr7:6010084-6010134	A549	lung:	n/a
43	chr7:6010084-6010134	HEEpiC	esophagus:	n/a
44	chr7:6010084-6010134	ovcar-3	ovarian:	n/a
45	chr7:6010084-6010134	Hepatocyte	liver:	n/a
46	chr7:6010084-6010134	HCT-116	colon:	n/a
47	chr7:6010084-6010134	HMEC	breast:	n/a
48	chr7:6010084-6010134	NHDF-neo	bronchial:	n/a
49	chr7:6010084-6010134	PANC-1	pancreas:	n/a
50	chr7:6010084-6010134	T-47D	breast:	n/a

No data

Variant related genes	Relation type
RSPH10B	TF binding region
RSPH10B	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
2	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
3	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
5	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
6	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
8	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
10	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
11	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
12	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
13	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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 miRNA target site	127 gene(s)	inside rSNPs	diseases
14	nsv433017	chr7:5853557-6045391	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1017061	chr7:5885326-6026706	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv830894	chr7:5889658-6072215	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
18	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
19	nsv970789	chr7:5958445-6027048	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv8037	chr7:6010076-6018230	Weak transcription Strong transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6010000-6010200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:6010000-6010200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:6010000-6010200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:6010000-6010200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:6010000-6010200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:6010000-6010200	Enhancers	Fetal Muscle Leg	muscle
7	chr7:6010000-6010200	Enhancers	Lung	lung
8	chr7:6010000-6010400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:6010000-6010400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:6010000-6010400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:6010000-6010400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:6010000-6010400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:6010000-6010400	Active TSS	Fetal Brain Female	brain

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