Variant report

Variant	rs10186860
Chromosome Location	chr2:127978515-127978516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr2:127978384-127978982	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:127978335-127978710	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr2:127978295-127978965	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:127978305-127978737	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr2:127978413-127979044	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:127978297-127978784	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:127977344-127978859	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUN	chr2:127978174-127978899	H1-hESC	embryonic stem cell:	n/a	chr2:127978757-127978764
9	MYC	chr2:127978307-127978840	H1-hESC	embryonic stem cell:	n/a	chr2:127978666-127978677
10	TAF1	chr2:127978382-127978761	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr2:127978350-127978767	H1-hESC	embryonic stem cell:	n/a	n/a
12	KAP1	chr2:127977920-127978773	U2OS	brain:	n/a	chr2:127978541-127978549
13	CHD1	chr2:127977925-127978781	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr2:127978293-127978705	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF2	chr2:127978475-127978905	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr2:127978461-127978935	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr2:127978020-127978923	H1-hESC	embryonic stem cell:	n/a	chr2:127978666-127978677
18	ZNF263	chr2:127977700-127978811	HEK293-T-REx	kidney:	n/a	n/a
19	EGR1	chr2:127978384-127978874	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr2:127978399-127978819	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBP	chr2:127977378-127978810	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3A	chr2:127975641-127978926	H1-hESC	embryonic stem cell:	n/a	chr2:127976830-127976841 chr2:127977490-127977501 chr2:127977162-127977173
23	MAX	chr2:127978272-127979069	H1-hESC	embryonic stem cell:	n/a	chr2:127978666-127978677
24	POLR2A	chr2:127978291-127978945	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr2:127978469-127978928	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr2:127978236-127979086	H1-hESC	embryonic stem cell:	n/a	chr2:127978666-127978677
27	CEBPB	chr2:127978408-127978681	A549	lung:	n/a	n/a
28	MAFK	chr2:127978399-127978884	H1-hESC	embryonic stem cell:	n/a	n/a
29	KAP1	chr2:127977834-127978785	HEK293	kidney:	n/a	chr2:127978541-127978549
30	CEBPB	chr2:127978376-127978690	HepG2	liver:	n/a	n/a
31	YY1	chr2:127978311-127979117	H1-hESC	embryonic stem cell:	n/a	n/a
32	E2F6	chr2:127978415-127979002	H1-hESC	embryonic stem cell:	n/a	n/a
33	TAF1	chr2:127978260-127978838	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr2:127978482-127978516	Gliobla	brain:	n/a	n/a
35	GTF2F1	chr2:127978457-127978751	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:127978490-127978540	ProgFib	skin:	n/a
2	chr2:127978490-127978540	AG04450	lung:	fetal
3	chr2:127978490-127978540	A549	lung:	n/a
4	chr2:127978490-127978540	GM12878	blood:	n/a
5	chr2:127978490-127978540	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:127978490-127978540	RPTEC	kidney:	n/a
7	chr2:127978490-127978540	SAEC	small airway:	n/a
8	chr2:127978490-127978540	HL-60	blood:	n/a
9	chr2:127978490-127978540	NB4	blood:	n/a
10	chr2:127978490-127978540	SKMC	muscle:	n/a
11	chr2:127978490-127978540	H1-hESC	embryonic stem cell:	embryo
12	chr2:127978490-127978540	HCF	heart:	n/a
13	chr2:127978490-127978540	HCT-116	colon:	n/a
14	chr2:127978490-127978540	K562	blood:	n/a
15	chr2:127978490-127978540	HMEC	breast:	n/a
16	chr2:127978490-127978540	HNPCEpiC	eye:	n/a
17	chr2:127978490-127978540	MCF-7	breast:	n/a
18	chr2:127978490-127978540	SK-N-MC	brain:	n/a
19	chr2:127978490-127978540	Jurkat	blood:	n/a
20	chr2:127978490-127978540	BE2_C	brain:	n/a
21	chr2:127978490-127978540	PANC-1	pancreas:	n/a
22	chr2:127978490-127978540	SK-N-SH_RA	brain:	n/a
23	chr2:127978490-127978540	HepG2	liver:	n/a
24	chr2:127978490-127978540	HUVEC	blood vessel:	n/a
25	chr2:127978490-127978540	HEEpiC	esophagus:	n/a
26	chr2:127978490-127978540	AG09309	skin:	n/a
27	chr2:127978490-127978540	Hepatocyte	liver:	n/a
28	chr2:127978490-127978540	GM19239	blood:	n/a
29	chr2:127978490-127978540	NHBE	bronchial:	n/a
30	chr2:127978490-127978540	AoSMC	blood vessel:	n/a
31	chr2:127978490-127978540	HAEpiC	amniotic membrane:	n/a
32	chr2:127978490-127978540	ECC-1	luminal epithelium:	n/a
33	chr2:127978490-127978540	Hela-S3	cervix:	n/a
34	chr2:127978490-127978540	ovcar-3	ovarian:	n/a
35	chr2:127978490-127978540	HRPEpiC	eye:	n/a
36	chr2:127978490-127978540	NH-A	brain:	n/a
37	chr2:127978490-127978540	IMR90	lung:	fetal
38	chr2:127978490-127978540	SK-N-SH	brain:	n/a
39	chr2:127978490-127978540	AG10803	skin:	n/a
40	chr2:127978490-127978540	MCF10A-Er-Src	breast:	n/a
41	chr2:127978490-127978540	T-47D	breast:	n/a
42	chr2:127978490-127978540	AG04449	skin:	fetal
43	chr2:127978490-127978540	GM12891	blood:	n/a
44	chr2:127978490-127978540	GM12892	blood:	n/a
45	chr2:127978490-127978540	HCPEpiC	choroid plexus:	n/a
46	chr2:127978490-127978540	HIPEpiC	eye:	n/a
47	chr2:127978490-127978540	GM06990	blood:	n/a
48	chr2:127978490-127978540	NT2-D1	testis:	n/a
49	chr2:127978490-127978540	HCM	heart:	n/a
50	chr2:127978490-127978540	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127978350..127980779-chr2:127984214..127985920,2	MCF-7	breast:

No data

Variant related genes	Relation type
CYP27C1	TF binding region
CYP27C1	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13382474	0.84[AFR][1000 genomes]
rs4254460	1.00[ASW][hapmap]

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	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv961678	chr2:127961305-127979990	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3331416	chr2:127962771-127980988	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127975600-127979000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:127975800-127978800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:127976000-127978800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:127976200-127978600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
5	chr2:127976200-127978800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr2:127976200-127979000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:127976400-127978600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr2:127976400-127978800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:127976400-127978800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:127976800-127978800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:127976800-127978800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:127976800-127978800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr2:127976800-127979000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr2:127976800-127979000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:127977000-127978600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:127977000-127981200	Weak transcription	Hela-S3	cervix
17	chr2:127977200-127978600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr2:127977200-127978600	Enhancers	Liver	Liver
19	chr2:127977200-127978800	Active TSS	Muscle Satellite Cultured Cells	--
20	chr2:127977200-127978800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr2:127977200-127979000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:127977400-127978600	Bivalent/Poised TSS	Fetal Thymus	thymus
23	chr2:127977600-127978800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
24	chr2:127977800-127978600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr2:127977800-127978600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
26	chr2:127977800-127978600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr2:127977800-127978600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
28	chr2:127977800-127978600	Flanking Active TSS	NH-A	brain
29	chr2:127977800-127978800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:127977800-127978800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:127977800-127978800	Bivalent/Poised TSS	NHDF-Ad	bronchial
32	chr2:127978000-127978600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:127978000-127978600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:127978000-127978600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:127978000-127978600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
36	chr2:127978000-127978600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
37	chr2:127978000-127978600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:127978000-127978600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
39	chr2:127978000-127978600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
40	chr2:127978000-127978600	Bivalent Enhancer	Placenta	Placenta
41	chr2:127978000-127978600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
42	chr2:127978000-127978800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
43	chr2:127978000-127978800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr2:127978000-127978800	Flanking Active TSS	Fetal Lung	lung
45	chr2:127978000-127979000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr2:127978200-127978600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:127978200-127978600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
48	chr2:127978200-127978600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
49	chr2:127978200-127978600	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr2:127978200-127978600	Flanking Bivalent TSS/Enh	Fetal Heart	heart

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