Variant report

Variant	rs10171957
Chromosome Location	chr2:182757198-182757199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:424)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr2:182755798-182758535	Hela-S3	cervix:	n/a	chr2:182756507-182756517 chr2:182757161-182757171
2	POLR2A	chr2:182756125-182757683	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:182756158-182757661	GM19193	blood:	n/a	n/a
4	CTCF	chr2:182757057-182757203	SK-N-SH_RA	brain:	n/a	n/a
5	TBL1XR1	chr2:182757153-182757870	K562	blood:	n/a	n/a
6	CTCF	chr2:182757160-182757310	GM12870	blood:	n/a	n/a
7	CTCF	chr2:182757140-182757290	AG10803	skin:	n/a	n/a
8	POLR2A	chr2:182756097-182757650	GM15510	blood:	n/a	n/a
9	TBP	chr2:182755761-182757740	K562	blood:	n/a	n/a
10	MAX	chr2:182756172-182757657	K562	blood:	n/a	chr2:182756490-182756500 chr2:182756427-182756436
11	BHLHE40	chr2:182756888-182757499	A549	lung:	n/a	n/a
12	POLR2A	chr2:182756622-182757513	A549	lung:	n/a	n/a
13	CEBPB	chr2:182757091-182758465	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr2:182756492-182757515	U87	brain:	n/a	n/a
15	SIN3AK20	chr2:182756508-182757833	MCF-7	breast:	n/a	n/a
16	PML	chr2:182756025-182757857	K562	blood:	n/a	n/a
17	TAF1	chr2:182756292-182757553	HepG2	liver:	n/a	n/a
18	ARID3A	chr2:182756801-182758309	HepG2	liver:	n/a	n/a
19	TAF1	chr2:182756024-182757701	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr2:182757090-182757598	GM12891	blood:	n/a	n/a
21	E2F6	chr2:182756865-182757214	K562	blood:	n/a	chr2:182757139-182757153 chr2:182757142-182757156
22	MAX	chr2:182756922-182757407	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr2:182756261-182757546	K562	blood:	n/a	chr2:182757139-182757153 chr2:182757142-182757156 chr2:182756331-182756346
24	CTCF	chr2:182757063-182757298	MCF-7	breast:	n/a	n/a
25	NFIC	chr2:182756752-182757497	HepG2	liver:	n/a	n/a
26	CTCF	chr2:182757060-182757210	HEK293	kidney:	n/a	n/a
27	UBTF	chr2:182755795-182757876	K562	blood:	n/a	n/a
28	ELF1	chr2:182756710-182757363	MCF-7	breast:	n/a	chr2:182757017-182757029
29	TAF1	chr2:182756606-182757503	A549	lung:	n/a	n/a
30	MYC	chr2:182757123-182757237	GM12878	blood:	n/a	n/a
31	MAX	chr2:182756622-182757668	H1-hESC	embryonic stem cell:	n/a	n/a
32	TCF12	chr2:182756902-182757340	A549	lung:	n/a	n/a
33	CTCF	chr2:182757095-182757250	GM13976	blood:	n/a	n/a
34	EP300	chr2:182756927-182757764	K562	blood:	n/a	n/a
35	TBP	chr2:182756856-182758310	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr2:182756147-182757585	A549	lung:	n/a	n/a
37	MYC	chr2:182755908-182757782	K562	blood:	n/a	chr2:182756490-182756500 chr2:182756427-182756436
38	CTCF	chr2:182757080-182757230	GM12872	blood:	n/a	n/a
39	EP300	chr2:182756127-182758049	SK-N-SH	brain:	n/a	chr2:182756434-182756443
40	HEY1	chr2:182756091-182757638	K562	blood:	n/a	chr2:182756513-182756528
41	POLR2A	chr2:182756650-182757699	GM12892	blood:	n/a	n/a
42	TCF12	chr2:182756485-182757697	A549	lung:	n/a	n/a
43	POLR2A	chr2:182756246-182757548	HepG2	liver:	n/a	n/a
44	PML	chr2:182756893-182757574	GM12878	blood:	n/a	n/a
45	TRIM28	chr2:182756850-182757700	K562	blood:	n/a	n/a
46	POLR2A	chr2:182756126-182757207	Raji	blood:	n/a	n/a
47	ZNF263	chr2:182756021-182758522	HEK293-T-REx	kidney:	n/a	chr2:182756286-182756295 chr2:182756283-182756292 chr2:182756289-182756298
48	CREB1	chr2:182756025-182757796	HepG2	liver:	n/a	n/a
49	TCF12	chr2:182756854-182757703	ECC-1	luminal epithelium:	n/a	n/a
50	MYC	chr2:182756266-182757560	MCF-7	breast:	n/a	chr2:182756490-182756500 chr2:182756427-182756436

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:182757157-182757207	GM12878	blood:	n/a
2	chr2:182757157-182757207	GM12891	blood:	n/a
3	chr2:182757157-182757207	BJ	skin:	n/a
4	chr2:182757157-182757207	LNCaP	prostate:	n/a
5	chr2:182757157-182757207	NH-A	brain:	n/a
6	chr2:182757157-182757207	SKMC	muscle:	n/a
7	chr2:182757157-182757207	A549	lung:	n/a
8	chr2:182757157-182757207	PFSK-1	brain:	n/a
9	chr2:182757157-182757207	H1-hESC	embryonic stem cell:	embryo
10	chr2:182757157-182757207	HAEpiC	amniotic membrane:	n/a
11	chr2:182757157-182757207	HNPCEpiC	eye:	n/a
12	chr2:182757157-182757207	K562	blood:	n/a
13	chr2:182757157-182757207	ECC-1	luminal epithelium:	n/a
14	chr2:182757157-182757207	NHBE	bronchial:	n/a
15	chr2:182757157-182757207	SK-N-MC	brain:	n/a
16	chr2:182757157-182757207	SAEC	small airway:	n/a
17	chr2:182757157-182757207	HMEC	breast:	n/a
18	chr2:182757157-182757207	HCT-116	colon:	n/a
19	chr2:182757157-182757207	HCM	heart:	n/a
20	chr2:182757157-182757207	NT2-D1	testis:	n/a
21	chr2:182757157-182757207	MCF10A-Er-Src	breast:	n/a
22	chr2:182757157-182757207	ProgFib	skin:	n/a
23	chr2:182757157-182757207	AG09309	skin:	n/a
24	chr2:182757157-182757207	Caco-2	colon:	n/a
25	chr2:182757157-182757207	AG04450	lung:	fetal
26	chr2:182757157-182757207	HCF	heart:	n/a
27	chr2:182757157-182757207	HL-60	blood:	n/a
28	chr2:182757157-182757207	GM19239	blood:	n/a
29	chr2:182757157-182757207	HepG2	liver:	n/a
30	chr2:182757157-182757207	AG09319	gingival:	n/a
31	chr2:182757157-182757207	HEEpiC	esophagus:	n/a
32	chr2:182757157-182757207	T-47D	breast:	n/a
33	chr2:182757157-182757207	AoSMC	blood vessel:	n/a
34	chr2:182757157-182757207	HRPEpiC	eye:	n/a
35	chr2:182757157-182757207	AG10803	skin:	n/a
36	chr2:182757157-182757207	IMR90	lung:	fetal
37	chr2:182757157-182757207	Hepatocyte	liver:	n/a
38	chr2:182757157-182757207	HEK293	kidney:	embryo
39	chr2:182757157-182757207	Hela-S3	cervix:	n/a
40	chr2:182757157-182757207	SK-N-SH_RA	brain:	n/a
41	chr2:182757157-182757207	NB4	blood:	n/a
42	chr2:182757157-182757207	GM12892	blood:	n/a
43	chr2:182757157-182757207	Jurkat	blood:	n/a
44	chr2:182757157-182757207	HRCEpiC	kidney:	n/a
45	chr2:182757157-182757207	HIPEpiC	eye:	n/a
46	chr2:182757157-182757207	HCPEpiC	choroid plexus:	n/a
47	chr2:182757157-182757207	SK-N-SH	brain:	n/a
48	chr2:182757157-182757207	GM06990	blood:	n/a
49	chr2:182757157-182757207	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:182757157-182757207	NHDF-neo	bronchial:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182754771..182758189-chr2:182950472..182955513,4	MCF-7	breast:
2	chr2:182756675..182757232-chr7:86822803..86823692,2	Hela-S3	cervix:
3	chr2:182755789..182757861-chr2:183988319..183990505,2	K562	blood:
4	chr2:182756746..182758830-chr2:183579706..183581743,2	K562	blood:
5	chr2:182755591..182758830-chr2:183579706..183582403,3	K562	blood:
6	chr2:182756875..182757681-chr7:100026085..100026864,2	Hela-S3	cervix:
7	chr2:182753988..182769660-chr2:182938612..182954194,58	MCF-7	breast:
8	chr2:182755199..182758124-chr2:182816359..182820685,4	MCF-7	breast:
9	chr2:182601328..182613741-chr2:182753153..182773539,79	MCF-7	breast:
10	chr2:182601728..182612786-chr2:182754371..182769481,60	MCF-7	breast:
11	chr2:181845093..181847328-chr2:182755996..182757943,2	K562	blood:
12	chr2:182754564..182757383-chr2:182817160..182819836,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260742	TF binding region
SSFA2	TF binding region
ENSG00000260742	CpG island
SSFA2	CpG island
ENSG00000135164	Chromatin interaction
ENSG00000077232	Chromatin interaction
ENSG00000150722	Chromatin interaction
ENSG00000163002	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000221023	Chromatin interaction
ENSG00000170035	Chromatin interaction
ENSG00000265129	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13405727	0.82[YRI][hapmap]
rs13407143	0.90[YRI][hapmap]

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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr2:182755600-182758800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr2:182755800-182757200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr2:182755800-182757200	Active TSS	Primary B cells from cord blood	blood
4	chr2:182755800-182757800	Active TSS	Fetal Brain Female	brain
5	chr2:182755800-182757800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:182755800-182758000	Active TSS	Brain Hippocampus Middle	brain
7	chr2:182755800-182758000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:182755800-182758000	Active TSS	Brain Substantia Nigra	brain
9	chr2:182755800-182758000	Active TSS	Duodenum Mucosa	Duodenum
10	chr2:182755800-182758400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:182755800-182758400	Active TSS	Brain Angular Gyrus	brain
12	chr2:182755800-182758600	Active TSS	Fetal Kidney	kidney
13	chr2:182755800-182758800	Active TSS	Fetal Thymus	thymus
14	chr2:182755800-182758800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:182755800-182759000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:182755800-182759000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:182755800-182759000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr2:182755800-182759000	Active TSS	Fetal Muscle Leg	muscle
19	chr2:182755800-182759000	Active TSS	Psoas Muscle	Psoas
20	chr2:182755800-182759000	Active TSS	Stomach Smooth Muscle	stomach
21	chr2:182755800-182759400	Active TSS	Thymus	Thymus
22	chr2:182755800-182759600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:182755800-182759600	Active TSS	Right Ventricle	heart
24	chr2:182755800-182759600	Active TSS	GM12878-XiMat	blood
25	chr2:182756000-182757600	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr2:182756000-182757800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:182756000-182757800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:182756000-182757800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr2:182756000-182757800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:182756000-182757800	Active TSS	Esophagus	oesophagus
31	chr2:182756000-182757800	Active TSS	Left Ventricle	heart
32	chr2:182756000-182757800	Active TSS	Lung	lung
33	chr2:182756000-182757800	Active TSS	Pancreas	Pancrea
34	chr2:182756000-182758000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr2:182756000-182758000	Active TSS	Fetal Muscle Trunk	muscle
36	chr2:182756000-182758200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:182756000-182758400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:182756000-182758400	Active TSS	Brain Anterior Caudate	brain
39	chr2:182756000-182758400	Active TSS	Ovary	ovary
40	chr2:182756000-182758400	Active TSS	A549	lung
41	chr2:182756000-182759000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:182756000-182759000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:182756000-182759000	Active TSS	Fetal Intestine Large	intestine
44	chr2:182756000-182759000	Active TSS	Placenta	Placenta
45	chr2:182756000-182759000	Active TSS	NHDF-Ad	bronchial
46	chr2:182756000-182759600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:182756000-182759600	Active TSS	Fetal Stomach	stomach
48	chr2:182756000-182760200	Active TSS	Hela-S3	cervix
49	chr2:182756000-182760400	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr2:182756000-182760400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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