Variant report

Variant	rs10178997
Chromosome Location	chr2:187868197-187868198
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr2:187867966-187868219	K562	blood:	n/a	n/a
2	ZNF384	chr2:187867983-187868393	K562	blood:	n/a	n/a
3	POLR2A	chr2:187867747-187868367	K562	blood:	n/a	n/a
4	E2F6	chr2:187867682-187868556	K562	blood:	n/a	chr2:187868108-187868117 chr2:187868150-187868160
5	MYC	chr2:187867861-187868306	K562	blood:	n/a	n/a
6	EP300	chr2:187867939-187868494	K562	blood:	n/a	chr2:187868172-187868188 chr2:187868135-187868151
7	HEY1	chr2:187867565-187868269	K562	blood:	n/a	chr2:187868150-187868165
8	RCOR1	chr2:187867842-187868250	K562	blood:	n/a	n/a
9	ELF1	chr2:187867728-187868226	K562	blood:	n/a	chr2:187867992-187868005
10	TAL1	chr2:187867976-187868364	K562	blood:	n/a	n/a
11	ZMIZ1	chr2:187867901-187868215	K562	blood:	n/a	n/a
12	TBL1XR1	chr2:187867722-187868322	K562	blood:	n/a	n/a
13	NR2F2	chr2:187867637-187868224	K562	blood:	n/a	n/a
14	CBX3	chr2:187867354-187868540	K562	blood:	n/a	n/a
15	POLR2A	chr2:187867781-187868595	K562	blood:	n/a	n/a
16	STAT5A	chr2:187867716-187868315	K562	blood:	n/a	n/a
17	YY1	chr2:187867850-187868346	K562	blood:	n/a	n/a
18	REST	chr2:187867824-187868201	K562	blood:	n/a	n/a
19	TRIM28	chr2:187867681-187868370	K562	blood:	n/a	n/a
20	NR2F2	chr2:187867599-187868556	K562	blood:	n/a	n/a
21	EGR1	chr2:187867816-187868343	K562	blood:	n/a	chr2:187868150-187868160 chr2:187868150-187868163
22	POLR2A	chr2:187867764-187868365	K562	blood:	n/a	n/a
23	YY1	chr2:187867761-187868328	K562	blood:	n/a	n/a
24	SETDB1	chr2:187867205-187868210	K562	blood:	n/a	n/a
25	IRF1	chr2:187867860-187868374	K562	blood:	n/a	n/a
26	MAX	chr2:187867836-187868321	K562	blood:	n/a	n/a
27	EGR1	chr2:187867813-187868270	K562	blood:	n/a	chr2:187868150-187868160 chr2:187868150-187868163
28	POLR2A	chr2:187867588-187868667	K562	blood:	n/a	n/a
29	HDAC2	chr2:187868035-187868293	K562	blood:	n/a	n/a
30	IRF1	chr2:187867861-187868397	K562	blood:	n/a	n/a
31	POLR2A	chr2:187867792-187868334	K562	blood:	n/a	n/a
32	ZBTB7A	chr2:187868034-187868201	K562	blood:	n/a	n/a
33	TAF1	chr2:187867785-187868372	K562	blood:	n/a	n/a
34	UBTF	chr2:187867897-187868283	K562	blood:	n/a	n/a
35	TBP	chr2:187867790-187868694	K562	blood:	n/a	n/a
36	MYC	chr2:187867854-187868641	K562	blood:	n/a	n/a
37	YY1	chr2:187868062-187868243	K562	blood:	n/a	n/a
38	CUX1	chr2:187867981-187868258	K562	blood:	n/a	n/a
39	JUND	chr2:187867712-187868327	K562	blood:	n/a	n/a
40	RAD21	chr2:187867992-187868257	K562	blood:	n/a	chr2:187868140-187868154 chr2:187868141-187868155 chr2:187868134-187868147
41	E2F6	chr2:187867873-187868243	K562	blood:	n/a	chr2:187868108-187868117 chr2:187868150-187868160
42	MAX	chr2:187867781-187868319	K562	blood:	n/a	n/a
43	POLR2A	chr2:187867736-187868368	K562	blood:	n/a	n/a
44	HEY1	chr2:187867675-187868300	K562	blood:	n/a	chr2:187868150-187868165
45	JUN	chr2:187867859-187868282	K562	blood:	n/a	n/a
46	CHD2	chr2:187867903-187868245	K562	blood:	n/a	n/a
47	POLR2A	chr2:187867712-187868342	K562	blood:	n/a	n/a
48	MAX	chr2:187867735-187868348	K562	blood:	n/a	n/a
49	CTCF	chr2:187868060-187868210	K562	blood:	n/a	chr2:187868135-187868148 chr2:187868138-187868151
50	SMC3	chr2:187868083-187868254	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000226553	TF binding region

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10209415	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11695426	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12611881	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12623026	0.83[ASN][1000 genomes]
rs13400709	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34834731	0.83[ASN][1000 genomes]
rs3911202	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187866800-187875600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:187867400-187868200	ZNF genes & repeats	Lung	lung
3	chr2:187867800-187868200	Active TSS	HSMMtube	muscle
4	chr2:187867800-187868400	Active TSS	Fetal Intestine Small	intestine
5	chr2:187867800-187868600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:187867800-187868600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:187867800-187868600	Active TSS	Adipose Nuclei	Adipose
8	chr2:187867800-187868600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr2:187867800-187868600	Active TSS	Fetal Muscle Leg	muscle
10	chr2:187867800-187868600	Active TSS	Fetal Stomach	stomach
11	chr2:187867800-187868600	Active TSS	Right Atrium	heart
12	chr2:187867800-187868800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:187867800-187868800	Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:187867800-187868800	Active TSS	Fetal Intestine Large	intestine
15	chr2:187867800-187868800	Active TSS	HSMM	muscle
16	chr2:187867800-187868800	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:187867800-187868800	Active TSS	NHDF-Ad	bronchial
18	chr2:187868000-187868400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:187868000-187868400	Active TSS	Psoas Muscle	Psoas
20	chr2:187868000-187868600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:187868000-187868600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:187868000-187868600	Active TSS	Fetal Muscle Trunk	muscle
23	chr2:187868000-187868600	Active TSS	Left Ventricle	heart
24	chr2:187868000-187868600	Active TSS	Ovary	ovary
25	chr2:187868000-187868600	Active TSS	Right Ventricle	heart
26	chr2:187868000-187868800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:187868000-187868800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:187868000-187868800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:187868000-187868800	Active TSS	Placenta	Placenta
30	chr2:187868000-187868800	Active TSS	Osteobl	bone
31	chr2:187868000-187869000	Active TSS	NHLF	lung
32	chr2:187868000-187869800	Active TSS	K562	blood

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