Variant report

Variant	rs1008336
Chromosome Location	chr7:149519184-149519185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:149518402-149519307	HepG2	liver:	n/a	chr7:149518818-149518828 chr7:149518651-149518661
2	ZBTB7A	chr7:149518972-149519249	K562	blood:	n/a	n/a
3	UBTF	chr7:149519117-149519833	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149519165-149519215	Jurkat	blood:	n/a
2	chr7:149519165-149519215	AG09309	skin:	n/a
3	chr7:149519165-149519215	GM12891	blood:	n/a
4	chr7:149519165-149519215	SK-N-MC	brain:	n/a
5	chr7:149519165-149519215	RPTEC	kidney:	n/a
6	chr7:149519165-149519215	AG04450	lung:	fetal
7	chr7:149519165-149519215	GM19239	blood:	n/a
8	chr7:149519165-149519215	K562	blood:	n/a
9	chr7:149519165-149519215	ovcar-3	ovarian:	n/a
10	chr7:149519165-149519215	IMR90	lung:	fetal
11	chr7:149519165-149519215	ECC-1	luminal epithelium:	n/a
12	chr7:149519165-149519215	HEK293	kidney:	embryo
13	chr7:149519165-149519215	SK-N-SH	brain:	n/a
14	chr7:149519165-149519215	HMEC	breast:	n/a
15	chr7:149519165-149519215	GM06990	blood:	n/a
16	chr7:149519165-149519215	HUVEC	blood vessel:	n/a
17	chr7:149519165-149519215	BJ	skin:	n/a
18	chr7:149519165-149519215	NHBE	bronchial:	n/a
19	chr7:149519165-149519215	AG10803	skin:	n/a
20	chr7:149519165-149519215	T-47D	breast:	n/a
21	chr7:149519165-149519215	H1-hESC	embryonic stem cell:	embryo
22	chr7:149519165-149519215	Caco-2	colon:	n/a
23	chr7:149519165-149519215	LNCaP	prostate:	n/a
24	chr7:149519165-149519215	AoSMC	blood vessel:	n/a
25	chr7:149519165-149519215	GM12878	blood:	n/a
26	chr7:149519165-149519215	SKMC	muscle:	n/a
27	chr7:149519165-149519215	HNPCEpiC	eye:	n/a
28	chr7:149519165-149519215	BE2_C	brain:	n/a
29	chr7:149519165-149519215	NHDF-neo	bronchial:	n/a
30	chr7:149519165-149519215	NT2-D1	testis:	n/a
31	chr7:149519165-149519215	MCF-7	breast:	n/a
32	chr7:149519165-149519215	NB4	blood:	n/a
33	chr7:149519165-149519215	HEEpiC	esophagus:	n/a
34	chr7:149519165-149519215	NH-A	brain:	n/a
35	chr7:149519165-149519215	Hela-S3	cervix:	n/a
36	chr7:149519165-149519215	HIPEpiC	eye:	n/a
37	chr7:149519165-149519215	SAEC	small airway:	n/a
38	chr7:149519165-149519215	AG09319	gingival:	n/a
39	chr7:149519165-149519215	HepG2	liver:	n/a
40	chr7:149519165-149519215	ProgFib	skin:	n/a
41	chr7:149519165-149519215	PrEC	prostate:	n/a
42	chr7:149519165-149519215	HRE	kidney:	n/a
43	chr7:149519165-149519215	HAEpiC	amniotic membrane:	n/a
44	chr7:149519165-149519215	MCF10A-Er-Src	breast:	n/a
45	chr7:149519165-149519215	CMK	blood:	n/a
46	chr7:149519165-149519215	HCM	heart:	n/a
47	chr7:149519165-149519215	HCF	heart:	n/a
48	chr7:149519165-149519215	HL-60	blood:	n/a
49	chr7:149519165-149519215	A549	lung:	n/a
50	chr7:149519165-149519215	HRPEpiC	eye:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149516696..149519376-chr7:149534960..149537116,2	MCF-7	breast:
2	chr7:149473373..149475721-chr7:149519077..149521805,2	MCF-7	breast:
3	chr7:149517716..149520406-chr7:149521366..149523449,3	K562	blood:
4	chr7:149507677..149512507-chr7:149515794..149520918,4	MCF-7	breast:
5	chr7:149516921..149520355-chr7:149520763..149523628,3	MCF-7	breast:

No data

Variant related genes	Relation type
SSPO	TF binding region
SSPO	CpG island
ENSG00000197558	Chromatin interaction
ENSG00000106479	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1005603	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10250401	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10252161	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10260959	0.80[CEU][hapmap]
rs10261977	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10262226	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1044805	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs11979187	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12666932	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12673475	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1557955	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1557956	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2040906	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs4389841	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57009176	0.93[ASN][1000 genomes]
rs57307418	0.95[ASN][1000 genomes]
rs57339339	0.88[ASN][1000 genomes]
rs62617122	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6953743	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6958235	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs6960187	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs6974897	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6975030	0.91[ASN][1000 genomes]
rs7791767	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7795784	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv831184	chr7:149424835-149600093	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2758139	chr7:149441590-149956415	Strong transcription Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	esv2759571	chr7:149441590-149956415	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv517242	chr7:149456359-149536214	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv889406	chr7:149458623-149522366	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv889407	chr7:149458623-149536214	Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv889408	chr7:149458623-149539138	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv521861	chr7:149458623-149582906	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
16	nsv889409	chr7:149458623-149585379	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
17	esv1820919	chr7:149459787-149532882	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	esv1816660	chr7:149462712-149529460	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv889411	chr7:149465674-149539138	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv889412	chr7:149472508-149536214	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv1029471	chr7:149496177-149810381	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
22	nsv539193	chr7:149496177-149810381	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
23	nsv1033095	chr7:149508083-149781872	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
24	nsv608987	chr7:149509981-149547703	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149473800-149534800	Weak transcription	Right Atrium	heart
2	chr7:149490600-149520200	Weak transcription	Brain Anterior Caudate	brain
3	chr7:149511200-149534800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:149513200-149520600	Weak transcription	Right Ventricle	heart
5	chr7:149514600-149525400	Enhancers	Fetal Muscle Leg	muscle
6	chr7:149515200-149522600	Weak transcription	Spleen	Spleen
7	chr7:149517800-149519200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:149517800-149519800	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:149518000-149519400	Enhancers	Fetal Intestine Large	intestine
10	chr7:149518000-149520200	Weak transcription	Fetal Brain Female	brain
11	chr7:149518200-149519200	Enhancers	Colonic Mucosa	Colon
12	chr7:149518200-149519200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr7:149518200-149519200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr7:149518200-149519400	Enhancers	Fetal Intestine Small	intestine
15	chr7:149518400-149519200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr7:149518400-149519400	Enhancers	Stomach Mucosa	stomach
17	chr7:149518400-149519400	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr7:149518400-149520600	Enhancers	Placenta	Placenta
19	chr7:149518600-149519200	Enhancers	Esophagus	oesophagus
20	chr7:149518600-149519200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr7:149518600-149520000	Enhancers	Liver	Liver
22	chr7:149518800-149519400	Weak transcription	Fetal Stomach	stomach
23	chr7:149518800-149520200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:149518800-149520800	Enhancers	HSMMtube	muscle
25	chr7:149519000-149519200	Active TSS	Duodenum Mucosa	Duodenum

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