Variant report

Variant	rs10930975
Chromosome Location	chr2:182548835-182548836
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr2:182547872-182549023	H1-hESC	embryonic stem cell:	n/a	chr2:182548851-182548863 chr2:182548850-182548865
2	CHD2	chr2:182548643-182548843	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr2:182548391-182549127	H1-hESC	embryonic stem cell:	n/a	chr2:182549079-182549093
4	ZNF143	chr2:182548032-182549133	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:182547954-182549399	H1-neurons	neurons:	n/a	n/a
6	MAX	chr2:182548077-182548879	H1-hESC	embryonic stem cell:	n/a	chr2:182548304-182548320
7	POLR2A	chr2:182548121-182549143	H1-neurons	neurons:	n/a	n/a
8	SUZ12	chr2:182546965-182550375	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr2:182543491-182550280	NT2-D1	testis:	n/a	n/a
10	MAX	chr2:182548110-182548846	H1-hESC	embryonic stem cell:	n/a	chr2:182548304-182548320
11	TCF12	chr2:182548129-182548872	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr2:182548087-182548991	H1-hESC	embryonic stem cell:	n/a	chr2:182548851-182548863 chr2:182548850-182548865
13	SIN3A	chr2:182548153-182549051	H1-hESC	embryonic stem cell:	n/a	chr2:182548855-182548866
14	CTBP2	chr2:182547074-182549554	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:182548807-182548857	HRPEpiC	eye:	n/a
2	chr2:182548807-182548857	H1-hESC	embryonic stem cell:	embryo
3	chr2:182548807-182548857	HUVEC	blood vessel:	n/a
4	chr2:182548786-182548836	PFSK-1	brain:	n/a
5	chr2:182548786-182548836	HCT-116	colon:	n/a
6	chr2:182548786-182548836	HIPEpiC	eye:	n/a
7	chr2:182548786-182548836	HEK293	kidney:	embryo
8	chr2:182548786-182548836	HAEpiC	amniotic membrane:	n/a
9	chr2:182548807-182548857	AG09319	gingival:	n/a
10	chr2:182548807-182548857	SK-N-SH	brain:	n/a
11	chr2:182548786-182548836	HRCEpiC	kidney:	n/a
12	chr2:182548786-182548836	MCF-7	breast:	n/a
13	chr2:182548786-182548836	HEEpiC	esophagus:	n/a
14	chr2:182548807-182548857	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:182548786-182548836	Hela-S3	cervix:	n/a
16	chr2:182548807-182548857	HCM	heart:	n/a
17	chr2:182548786-182548836	HCF	heart:	n/a
18	chr2:182548807-182548857	LNCaP	prostate:	n/a
19	chr2:182548807-182548857	AG09309	skin:	n/a
20	chr2:182548786-182548836	HCPEpiC	choroid plexus:	n/a
21	chr2:182548786-182548836	GM12892	blood:	n/a
22	chr2:182548786-182548836	K562	blood:	n/a
23	chr2:182548807-182548857	IMR90	lung:	fetal
24	chr2:182548786-182548836	AG04450	lung:	fetal
25	chr2:182548807-182548857	HepG2	liver:	n/a
26	chr2:182548807-182548857	Hepatocyte	liver:	n/a
27	chr2:182548786-182548836	A549	lung:	n/a
28	chr2:182548786-182548836	CMK	blood:	n/a
29	chr2:182548807-182548857	Jurkat	blood:	n/a
30	chr2:182548786-182548836	PrEC	prostate:	n/a
31	chr2:182548786-182548836	NH-A	brain:	n/a
32	chr2:182548786-182548836	U87	brain:	n/a
33	chr2:182548807-182548857	GM19239	blood:	n/a
34	chr2:182548786-182548836	AG04449	skin:	fetal
35	chr2:182548807-182548857	SKMC	muscle:	n/a
36	chr2:182548807-182548857	PANC-1	pancreas:	n/a
37	chr2:182548786-182548836	SKMC	muscle:	n/a
38	chr2:182548807-182548857	HMEC	breast:	n/a
39	chr2:182548807-182548857	AG10803	skin:	n/a
40	chr2:182548807-182548857	GM12878	blood:	n/a
41	chr2:182548807-182548857	PrEC	prostate:	n/a
42	chr2:182548807-182548857	RPTEC	kidney:	n/a
43	chr2:182548786-182548836	Jurkat	blood:	n/a
44	chr2:182548786-182548836	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:182548786-182548836	AG09309	skin:	n/a
46	chr2:182548786-182548836	NB4	blood:	n/a
47	chr2:182548807-182548857	HRE	kidney:	n/a
48	chr2:182548786-182548836	SK-N-SH_RA	brain:	n/a
49	chr2:182548786-182548836	AoSMC	blood vessel:	n/a
50	chr2:182548807-182548857	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182546719..182548427-chr2:182548447..182551068,2	K562	blood:
2	chr2:182542601..182545361-chr2:182546496..182548838,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA4-1	chr2:182546597-182554169	NONHSAT075881

No data

Variant related genes	Relation type
CERKL	TF binding region
NEUROD1	TF binding region
CERKL	CpG island
NEUROD1	CpG island
ENSG00000234595	Chromatin interaction
ENSG00000162992	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4404231	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182543600-182550200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:182545200-182549000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr2:182545200-182549800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:182545200-182550000	Bivalent Enhancer	Fetal Thymus	thymus
5	chr2:182545200-182550200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:182545200-182550400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr2:182545400-182549400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:182545800-182549400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr2:182546000-182550200	Weak transcription	Gastric	stomach
10	chr2:182547000-182550200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr2:182547200-182549000	Bivalent Enhancer	Spleen	Spleen
12	chr2:182547200-182549400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr2:182547400-182550200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr2:182547400-182550400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr2:182547400-182550400	Bivalent Enhancer	Placenta	Placenta
16	chr2:182547600-182549000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:182547600-182549200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr2:182547600-182549200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:182547600-182549800	Bivalent Enhancer	Lung	lung
20	chr2:182547600-182550200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:182547800-182549000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr2:182547800-182549000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
23	chr2:182547800-182549000	Bivalent Enhancer	Left Ventricle	heart
24	chr2:182547800-182549200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr2:182547800-182549200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:182547800-182549200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:182547800-182549200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:182547800-182549200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr2:182547800-182549200	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr2:182547800-182549400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:182547800-182549400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr2:182547800-182549600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr2:182547800-182549600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr2:182548000-182549200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:182548000-182549400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:182548000-182549600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr2:182548000-182550200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr2:182548200-182549000	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr2:182548400-182549000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:182548400-182549000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr2:182548400-182549000	Bivalent/Poised TSS	Thymus	Thymus
42	chr2:182548400-182549000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
43	chr2:182548400-182549200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr2:182548400-182549200	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr2:182548400-182549600	Bivalent Enhancer	Fetal Stomach	stomach
46	chr2:182548400-182549800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:182548600-182549000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:182548600-182549000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
49	chr2:182548600-182549000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:182548600-182549000	Bivalent Enhancer	NH-A	brain

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