Variant report

Variant	rs72549108
Chromosome Location	chr8:10697035-10697036
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:156)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:156 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr8:10697005-10697824	HCT-116	colon:	n/a	n/a
2	HCFC1	chr8:10696157-10697962	Hela-S3	cervix:	n/a	n/a
3	CREB1	chr8:10696982-10697895	GM12878	blood:	n/a	chr8:10697397-10697410
4	MXI1	chr8:10696152-10697954	GM12878	blood:	n/a	n/a
5	CCNT2	chr8:10696697-10697605	K562	blood:	n/a	n/a
6	MAX	chr8:10696415-10697865	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr8:10696932-10697933	HCT-116	colon:	n/a	n/a
8	UBTF	chr8:10696392-10697685	K562	blood:	n/a	n/a
9	ELF1	chr8:10696818-10697790	GM12878	blood:	n/a	chr8:10697308-10697320 chr8:10697434-10697443 chr8:10697285-10697297 chr8:10697504-10697516
10	SIN3AK20	chr8:10696968-10698019	MCF-7	breast:	n/a	n/a
11	MAX	chr8:10696430-10698026	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr8:10697000-10697860	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr8:10697030-10697756	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr8:10696436-10697891	GM18951	blood:	n/a	n/a
15	SIN3A	chr8:10696434-10697840	GM12878	blood:	n/a	chr8:10697628-10697637
16	SIN3A	chr8:10696379-10697866	H1-hESC	embryonic stem cell:	n/a	chr8:10697628-10697637
17	POLR2A	chr8:10696960-10697989	GM12892	blood:	n/a	n/a
18	CREB1	chr8:10697017-10697824	H1-hESC	embryonic stem cell:	n/a	chr8:10697397-10697410
19	HCFC1	chr8:10696396-10697699	K562	blood:	n/a	n/a
20	POLR2A	chr8:10696994-10697858	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr8:10697033-10697491	K562	blood:	n/a	n/a
22	POLR2A	chr8:10697030-10697770	Gliobla	brain:	n/a	n/a
23	TAF1	chr8:10696881-10697885	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUN	chr8:10696923-10698023	K562	blood:	n/a	chr8:10697547-10697556 chr8:10697399-10697408
25	SIN3AK20	chr8:10696894-10697624	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr8:10696954-10697844	MCF-7	breast:	n/a	n/a
27	REST	chr8:10696169-10697919	H1-neurons	neurons:	n/a	chr8:10697451-10697464
28	POLR2A	chr8:10696939-10697939	U87	brain:	n/a	n/a
29	POLR2A	chr8:10696371-10698275	PBDE	blood:	n/a	n/a
30	POLR2A	chr8:10696964-10697989	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr8:10697027-10697729	H1-neurons	neurons:	n/a	n/a
32	MYC	chr8:10696417-10698010	MCF10A-Er-Src	breast:	n/a	n/a
33	MAX	chr8:10697015-10697906	MCF-7	breast:	n/a	n/a
34	CREB1	chr8:10697015-10697793	A549	lung:	n/a	chr8:10697397-10697410
35	POLR2A	chr8:10696447-10698160	GM18505	blood:	n/a	n/a
36	MXI1	chr8:10696242-10697893	IMR90	lung:	n/a	n/a
37	POLR2A	chr8:10696474-10697928	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr8:10697009-10697831	A549	lung:	n/a	n/a
39	E2F6	chr8:10697002-10697851	K562	blood:	n/a	chr8:10697400-10697409 chr8:10697398-10697407
40	POLR2A	chr8:10696510-10697872	GM18526	blood:	n/a	n/a
41	POU2F2	chr8:10697018-10697823	GM12891	blood:	n/a	chr8:10697377-10697389 chr8:10697437-10697449
42	MAX	chr8:10696955-10698017	HCT-116	colon:	n/a	n/a
43	MYC	chr8:10696370-10697975	K562	blood:	n/a	n/a
44	POLR2A	chr8:10697012-10697518	K562	blood:	n/a	n/a
45	POLR2A	chr8:10696415-10698145	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr8:10696482-10697845	NB4	blood:	n/a	n/a
47	CREB1	chr8:10696923-10697808	H1-hESC	embryonic stem cell:	n/a	chr8:10697397-10697410
48	REST	chr8:10696989-10697528	PFSK-1	brain:	n/a	chr8:10697451-10697464
49	POLR2A	chr8:10696577-10697927	GM15510	blood:	n/a	n/a
50	CREB1	chr8:10696951-10697846	HepG2	liver:	n/a	chr8:10697397-10697410

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10697017-10697067	AG09319	gingival:	n/a
2	chr8:10697017-10697067	GM19239	blood:	n/a
3	chr8:10697017-10697067	RPTEC	kidney:	n/a
4	chr8:10697017-10697067	AoSMC	blood vessel:	n/a
5	chr8:10697017-10697067	HRE	kidney:	n/a
6	chr8:10697017-10697067	SKMC	muscle:	n/a
7	chr8:10697017-10697067	ECC-1	luminal epithelium:	n/a
8	chr8:10697017-10697067	NHBE	bronchial:	n/a
9	chr8:10697017-10697067	K562	blood:	n/a
10	chr8:10697017-10697067	SK-N-MC	brain:	n/a
11	chr8:10697017-10697067	MCF-7	breast:	n/a
12	chr8:10697017-10697067	PrEC	prostate:	n/a
13	chr8:10697017-10697067	GM12878	blood:	n/a
14	chr8:10697017-10697067	NH-A	brain:	n/a
15	chr8:10697017-10697067	HPAEpiC	pulmonary alveolar:	n/a
16	chr8:10697017-10697067	Hepatocyte	liver:	n/a
17	chr8:10697017-10697067	BJ	skin:	n/a
18	chr8:10697017-10697067	BE2_C	brain:	n/a
19	chr8:10697017-10697067	HEK293	kidney:	embryo
20	chr8:10697017-10697067	A549	lung:	n/a
21	chr8:10697017-10697067	LNCaP	prostate:	n/a
22	chr8:10697017-10697067	HAEpiC	amniotic membrane:	n/a
23	chr8:10697017-10697067	HCF	heart:	n/a
24	chr8:10697017-10697067	HUVEC	blood vessel:	n/a
25	chr8:10697017-10697067	GM06990	blood:	n/a
26	chr8:10697017-10697067	HRPEpiC	eye:	n/a
27	chr8:10697017-10697067	HEEpiC	esophagus:	n/a
28	chr8:10697017-10697067	GM12891	blood:	n/a
29	chr8:10697017-10697067	HRCEpiC	kidney:	n/a
30	chr8:10697017-10697067	HL-60	blood:	n/a
31	chr8:10697017-10697067	HCPEpiC	choroid plexus:	n/a
32	chr8:10697017-10697067	HCT-116	colon:	n/a
33	chr8:10697017-10697067	AG09309	skin:	n/a
34	chr8:10697017-10697067	AG04450	lung:	fetal
35	chr8:10697017-10697067	NHDF-neo	bronchial:	n/a
36	chr8:10697017-10697067	PFSK-1	brain:	n/a
37	chr8:10697017-10697067	SK-N-SH	brain:	n/a
38	chr8:10697017-10697067	HepG2	liver:	n/a
39	chr8:10697017-10697067	AG04449	skin:	fetal
40	chr8:10697017-10697067	U87	brain:	n/a
41	chr8:10697017-10697067	HCM	heart:	n/a
42	chr8:10697017-10697067	NB4	blood:	n/a
43	chr8:10697017-10697067	Hela-S3	cervix:	n/a
44	chr8:10697017-10697067	IMR90	lung:	fetal
45	chr8:10697017-10697067	NT2-D1	testis:	n/a
46	chr8:10697017-10697067	HIPEpiC	eye:	n/a
47	chr8:10697017-10697067	ovcar-3	ovarian:	n/a
48	chr8:10697017-10697067	AG10803	skin:	n/a
49	chr8:10697017-10697067	Jurkat	blood:	n/a
50	chr8:10697017-10697067	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:10683525..10686850-chr8:10694502..10697878,5	K562	blood:
2	chr8:10683547..10686608-chr8:10694341..10697878,5	K562	blood:
3	chr8:10447281..10448089-chr8:10696064..10697196,3	MCF-7	breast:
4	chr8:10674954..10678350-chr8:10693952..10697087,3	K562	blood:
5	chr8:10687156..10690707-chr8:10693616..10698468,7	K562	blood:
6	chr8:10690421..10694581-chr8:10695821..10698975,5	MCF-7	breast:
7	chr8:10696865..10697476-chr9:116172175..116172925,2	Hela-S3	cervix:
8	chr8:10405123..10407146-chr8:10694080..10697115,3	MCF-7	breast:
9	chr8:10528112..10530692-chr8:10696880..10699073,2	K562	blood:
10	chr7:6048462..6049308-chr8:10696898..10697687,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000253695	TF binding region
ENSG00000253695	CpG island
ENSG00000171060	Chromatin interaction
ENSG00000254093	Chromatin interaction
ENSG00000106305	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000122512	Chromatin interaction
ENSG00000148229	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11988831	1.00[AMR][1000 genomes]
rs11998674	1.00[AMR][1000 genomes]
rs2409657	1.00[AMR][1000 genomes]
rs2409661	1.00[AMR][1000 genomes]
rs2409668	1.00[AMR][1000 genomes]
rs28433774	1.00[AMR][1000 genomes]
rs34329624	1.00[AMR][1000 genomes]
rs35373412	1.00[AMR][1000 genomes]
rs35703720	1.00[AMR][1000 genomes]
rs72549106	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 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	chr8:10695800-10698000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:10696000-10697400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:10696000-10698200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:10696000-10698200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:10696000-10698200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:10696000-10698200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:10696200-10697600	Active TSS	NHDF-Ad	bronchial
8	chr8:10696200-10698000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr8:10696200-10698000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:10696200-10698000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:10696200-10698000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:10696200-10698000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:10696200-10698000	Active TSS	Psoas Muscle	Psoas
14	chr8:10696200-10698200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr8:10696200-10698200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:10696200-10698200	Active TSS	GM12878-XiMat	blood
17	chr8:10696400-10697200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr8:10696400-10697200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr8:10696400-10697200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:10696400-10697200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr8:10696400-10697600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:10696400-10697600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:10696400-10697600	Active TSS	Fetal Intestine Small	intestine
24	chr8:10696400-10697600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr8:10696400-10697800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:10696400-10697800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:10696400-10697800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr8:10696400-10697800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:10696400-10697800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:10696400-10697800	Active TSS	A549	lung
31	chr8:10696400-10697800	Active TSS	K562	blood
32	chr8:10696400-10697800	Active TSS	NHLF	lung
33	chr8:10696400-10698000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:10696400-10698000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:10696400-10698000	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr8:10696400-10698000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr8:10696400-10698000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:10696400-10698000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:10696400-10698000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:10696400-10698000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr8:10696400-10698000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:10696400-10698000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:10696400-10698000	Active TSS	Brain Germinal Matrix	brain
44	chr8:10696400-10698000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:10696400-10698000	Active TSS	Colonic Mucosa	Colon
46	chr8:10696400-10698000	Active TSS	Fetal Brain Female	brain
47	chr8:10696400-10698000	Active TSS	Fetal Stomach	stomach
48	chr8:10696400-10698000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr8:10696400-10698000	Active TSS	NH-A	brain
50	chr8:10696400-10698200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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