Variant report

Variant	rs34066981
Chromosome Location	chr2:189155855-189155856
allele	C/T
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	CUX1	chr2:189155791-189156142	K562	blood:	n/a	n/a
2	POLR2A	chr2:189155814-189156557	A549	lung:	n/a	n/a
3	POLR2A	chr2:189155830-189159188	H1-hESC	embryonic stem cell:	n/a	n/a
4	SMC3	chr2:189155238-189159444	SK-N-SH	brain:	n/a	chr2:189157006-189157013
5	POLR2A	chr2:189155853-189157960	K562	blood:	n/a	n/a
6	RAD21	chr2:189155121-189159652	SK-N-SH	brain:	n/a	chr2:189157053-189157062 chr2:189157634-189157648
7	CHD1	chr2:189155677-189156285	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr2:189155279-189161412	SK-N-SH	brain:	n/a	n/a
9	TBL1XR1	chr2:189155748-189156733	K562	blood:	n/a	n/a
10	MXI1	chr2:189155585-189159113	IMR90	lung:	n/a	n/a
11	POLR2A	chr2:189155713-189158935	PANC-1	pancreas:	n/a	n/a
12	UBTF	chr2:189155491-189157932	K562	blood:	n/a	n/a
13	TCF12	chr2:189155796-189158156	SK-N-SH	brain:	n/a	chr2:189156082-189156089
14	POLR2A	chr2:189155665-189158934	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr2:189155767-189159411	SK-N-SH	brain:	n/a	n/a
16	RAD21	chr2:189155820-189156782	A549	lung:	n/a	n/a
17	POLR2A	chr2:189155688-189155855	MCF10A-Er-Src	breast:	n/a	n/a
18	TCF12	chr2:189155774-189159211	A549	lung:	n/a	chr2:189156082-189156089
19	MAX	chr2:189155817-189159027	A549	lung:	n/a	chr2:189157243-189157253 chr2:189157025-189157035
20	ARID3A	chr2:189155478-189156303	K562	blood:	n/a	n/a
21	GATA3	chr2:189155799-189157010	SK-N-SH	brain:	n/a	chr2:189156233-189156240 chr2:189156226-189156247 chr2:189156233-189156240 chr2:189156228-189156244 chr2:189156231-189156241 chr2:189156233-189156240
22	TAF7	chr2:189155840-189159451	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:189155765-189158930	HCT-116	colon:	n/a	n/a
24	BHLHE40	chr2:189155783-189159120	K562	blood:	n/a	n/a
25	MAX	chr2:189155813-189158058	ECC-1	luminal epithelium:	n/a	chr2:189157243-189157253 chr2:189157025-189157035
26	POLR2A	chr2:189155777-189158086	HUVEC	blood vessel:	n/a	n/a
27	MYC	chr2:189155766-189156865	K562	blood:	n/a	n/a
28	MAFK	chr2:189155804-189156009	K562	blood:	n/a	n/a
29	POLR2A	chr2:189155173-189159469	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr2:189155841-189158019	PFSK-1	brain:	n/a	n/a
31	GATA1	chr2:189155806-189156685	PBDE	blood:	n/a	chr2:189156233-189156240 chr2:189156226-189156247 chr2:189156233-189156240 chr2:189156228-189156244 chr2:189156231-189156241 chr2:189156233-189156240
32	KAP1	chr2:189155749-189159564	HEK293	kidney:	n/a	chr2:189158519-189158527 chr2:189156384-189156392
33	CTCF	chr2:189155212-189158893	A549	lung:	n/a	chr2:189157054-189157062
34	KAP1	chr2:189155854-189159403	U2OS	brain:	n/a	chr2:189158519-189158527 chr2:189156384-189156392
35	MAZ	chr2:189155732-189158339	IMR90	lung:	n/a	chr2:189157243-189157253 chr2:189157025-189157035
36	EP300	chr2:189155843-189156485	GM12878	blood:	n/a	n/a
37	POLR2A	chr2:189155753-189155922	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:189140399..189142820-chr2:189154292..189157242,2	MCF-7	breast:
2	chr2:189148121..189153367-chr2:189154784..189162424,9	K562	blood:
3	chr2:189150760..189152775-chr2:189155394..189157750,2	MCF-7	breast:
4	chr2:189155055..189158409-chr2:189159948..189163832,8	K562	blood:

Variant related genes	Relation type
LINC01090	TF binding region
GULP1	TF binding region
ENSG00000200650	Chromatin interaction
ENSG00000207951	Chromatin interaction
ENSG00000231689	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10168305	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175838	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179504	0.83[EUR][1000 genomes]
rs10179836	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179899	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180000	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184703	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187646	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187791	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189197	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189416	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195059	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10199261	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204144	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209424	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469734	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469735	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931333	0.82[EUR][1000 genomes]
rs12693490	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693491	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693492	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693493	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693494	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693495	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693497	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987018	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987553	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995107	0.82[EUR][1000 genomes]
rs12995727	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003679	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007721	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021294	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027220	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029662	0.82[EUR][1000 genomes]
rs13032231	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382200	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385282	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390401	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390524	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394232	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394422	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403228	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404958	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413164	1.00[ASN][1000 genomes]
rs13429075	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572636	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000922	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34135749	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34140900	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34142137	0.82[EUR][1000 genomes]
rs34253555	0.81[AMR][1000 genomes]
rs34353529	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358898	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34395949	0.80[EUR][1000 genomes]
rs34484855	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34555222	0.82[EUR][1000 genomes]
rs34557812	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34575499	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34583514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762706	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762794	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35015018	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35060323	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35196443	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35325130	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35355034	0.82[EUR][1000 genomes]
rs35442646	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536225	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699394	0.80[EUR][1000 genomes]
rs35877064	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36174757	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3889818	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3924673	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4128404	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4433962	0.83[EUR][1000 genomes]
rs4535011	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666757	0.82[EUR][1000 genomes]
rs4667219	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667220	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992742	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4992743	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55852512	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434277	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66948063	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66993342	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718697	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720002	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720983	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67344766	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67389016	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748077	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67621133	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67804812	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901602	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72909512	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72909520	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72911423	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7571197	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571494	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579554	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593232	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9288152	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288153	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808523	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808557	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189144200-189156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:189154600-189156000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:189155200-189156000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:189155200-189156000	Flanking Active TSS	HUVEC	blood vessel
5	chr2:189155200-189161800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:189155400-189156000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:189155400-189156000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:189155400-189156200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:189155400-189156200	Flanking Active TSS	Fetal Lung	lung
10	chr2:189155400-189156400	Flanking Active TSS	Fetal Heart	heart
11	chr2:189155400-189158400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:189155400-189160800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:189155400-189161000	Active TSS	Aorta	Aorta
14	chr2:189155400-189161200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:189155400-189161200	Active TSS	K562	blood
16	chr2:189155400-189161600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:189155600-189156000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:189155600-189156000	Active TSS	Fetal Brain Male	brain
19	chr2:189155600-189156000	Flanking Active TSS	Fetal Kidney	kidney
20	chr2:189155600-189156000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:189155600-189156200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:189155600-189156200	Flanking Active TSS	NH-A	brain
23	chr2:189155600-189157000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:189155600-189157200	Active TSS	Brain Germinal Matrix	brain
25	chr2:189155600-189158600	Active TSS	Fetal Brain Female	brain
26	chr2:189155600-189158600	Active TSS	NHLF	lung
27	chr2:189155600-189161200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr2:189155600-189161600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:189155600-189161800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:189155800-189156000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:189155800-189156000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:189155800-189156000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:189155800-189156000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:189155800-189156000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
35	chr2:189155800-189156000	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr2:189155800-189156000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:189155800-189156000	Enhancers	Liver	Liver
38	chr2:189155800-189156000	Enhancers	Brain Angular Gyrus	brain
39	chr2:189155800-189156000	Enhancers	Brain Substantia Nigra	brain
40	chr2:189155800-189156000	Active TSS	Colonic Mucosa	Colon
41	chr2:189155800-189156000	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr2:189155800-189156000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr2:189155800-189156000	Flanking Active TSS	Fetal Stomach	stomach
44	chr2:189155800-189156000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
45	chr2:189155800-189156000	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr2:189155800-189156000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:189155800-189156000	Flanking Active TSS	Stomach Mucosa	stomach
48	chr2:189155800-189156000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr2:189155800-189156000	Flanking Active TSS	NHDF-Ad	bronchial
50	chr2:189155800-189156000	Enhancers	NHEK	skin

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