Variant report

Variant	rs750185
Chromosome Location	chr2:31361485-31361486
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	MAX	chr2:31360523-31362014	H1-hESC	embryonic stem cell:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
2	USF1	chr2:31361441-31361841	A549	lung:	n/a	chr2:31361561-31361577
3	JUND	chr2:31361297-31361815	H1-hESC	embryonic stem cell:	n/a	chr2:31361466-31361475 chr2:31361558-31361567 chr2:31361563-31361572
4	CTCF	chr2:31360624-31361993	MCF-7	breast:	n/a	chr2:31361855-31361863 chr2:31360996-31361009 chr2:31361855-31361868
5	CTCF	chr2:31361398-31361866	H1-hESC	embryonic stem cell:	n/a	chr2:31361855-31361863
6	POLR2A	chr2:31360696-31361678	A549	lung:	n/a	n/a
7	CTCF	chr2:31361352-31361756	MCF-7	breast:	n/a	n/a
8	YY1	chr2:31360770-31361840	A549	lung:	n/a	chr2:31361383-31361397 chr2:31361568-31361579
9	CTCF	chr2:31361299-31361762	MCF-7	breast:	n/a	n/a
10	EP300	chr2:31360828-31361778	SK-N-SH	brain:	n/a	chr2:31361465-31361474 chr2:31361372-31361385
11	USF1	chr2:31361443-31361886	A549	lung:	n/a	chr2:31361561-31361577
12	MAX	chr2:31360650-31361890	A549	lung:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
13	CTCF	chr2:31361381-31361746	GM12892	blood:	n/a	n/a
14	FOXA2	chr2:31361332-31361929	A549	lung:	n/a	n/a
15	CTCF	chr2:31361331-31361789	A549	lung:	n/a	n/a
16	POLR2A	chr2:31361334-31361494	MCF-7	breast:	n/a	n/a
17	POLR2A	chr2:31361249-31361573	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr2:31361367-31361765	GM12878	blood:	n/a	n/a
19	RAD21	chr2:31361343-31361785	A549	lung:	n/a	chr2:31361426-31361438 chr2:31361678-31361692 chr2:31361599-31361612
20	CTCF	chr2:31359180-31362243	SK-N-SH	brain:	n/a	chr2:31361855-31361863 chr2:31360996-31361009 chr2:31361855-31361868
21	MAX	chr2:31361372-31361912	SK-N-SH	brain:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
22	CTCF	chr2:31361384-31361753	GM19240	blood:	n/a	n/a
23	CTCF	chr2:31361420-31361570	BE2_C	brain:	n/a	n/a
24	POLR2A	chr2:31361159-31361644	A549	lung:	n/a	n/a
25	CTCF	chr2:31361251-31361922	A549	lung:	n/a	chr2:31361855-31361863 chr2:31361855-31361868
26	EP300	chr2:31361483-31361764	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr2:31361253-31361763	MCF-7	breast:	n/a	n/a
28	SP1	chr2:31361239-31361966	A549	lung:	n/a	chr2:31361560-31361569 chr2:31361387-31361399 chr2:31361559-31361568 chr2:31361563-31361575 chr2:31361558-31361570 chr2:31361558-31361570 chr2:31361560-31361569
29	CTCF	chr2:31360854-31361787	IMR90	lung:	n/a	chr2:31360996-31361009
30	MAX	chr2:31360799-31361924	SK-N-SH	brain:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
31	CTCF	chr2:31361380-31361530	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr2:31361276-31361787	NHEK	skin:	n/a	n/a
33	MXI1	chr2:31359325-31362237	SK-N-SH	brain:	n/a	n/a
34	YY1	chr2:31361373-31361816	H1-hESC	embryonic stem cell:	n/a	chr2:31361383-31361397 chr2:31361568-31361579
35	E2F6	chr2:31359970-31362668	H1-hESC	embryonic stem cell:	n/a	chr2:31361662-31361669 chr2:31361564-31361576 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361675-31361685 chr2:31360317-31360327 chr2:31360586-31360600 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361636-31361646 chr2:31361082-31361092
36	MYC	chr2:31360896-31361826	H1-hESC	embryonic stem cell:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
37	CTCF	chr2:31361350-31361720	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr2:31361367-31361731	GM19238	blood:	n/a	n/a
39	E2F6	chr2:31360411-31362213	A549	lung:	n/a	chr2:31361662-31361669 chr2:31361564-31361576 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361675-31361685 chr2:31360586-31360600 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361636-31361646 chr2:31361082-31361092
40	SIN3A	chr2:31360731-31361818	H1-hESC	embryonic stem cell:	n/a	chr2:31361642-31361655 chr2:31360772-31360783 chr2:31360795-31360804
41	HDAC2	chr2:31360759-31361938	MCF-7	breast:	n/a	n/a
42	PBX3	chr2:31361422-31361858	A549	lung:	n/a	n/a
43	EGR1	chr2:31361439-31361866	H1-hESC	embryonic stem cell:	n/a	n/a
44	HA-E2F1	chr2:31360607-31362123	MCF-7	breast:	n/a	chr2:31361662-31361669 chr2:31361564-31361576 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361675-31361685 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361636-31361646 chr2:31361082-31361092
45	MAX	chr2:31359804-31362170	A549	lung:	n/a	chr2:31361683-31361692 chr2:31362133-31362143 chr2:31361674-31361690 chr2:31361684-31361691
46	MAX	chr2:31360509-31362085	HCT-116	colon:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
47	TBP	chr2:31361205-31361868	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr2:31360459-31362050	A549	lung:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
49	POLR2A	chr2:31360056-31361635	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr2:31360555-31361990	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31348773..31351647-chr2:31359918..31362358,2	MCF-7	breast:

Variant related genes	Relation type
GALNT14	TF binding region
ENSG00000158089	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1443717	0.89[EUR][1000 genomes]
rs17010751	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010752	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751477	1.00[ASN][1000 genomes]
rs733501	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73921552	1.00[ASN][1000 genomes]
rs73921578	1.00[ASN][1000 genomes]
rs73921579	1.00[ASN][1000 genomes]
rs745524	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607657	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats 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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31359400-31361600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr2:31359400-31361800	Active TSS	A549	lung
3	chr2:31359600-31361800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:31359600-31362200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:31359800-31361600	Active TSS	HMEC	breast
6	chr2:31359800-31362000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr2:31359800-31362000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr2:31359800-31362000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr2:31360000-31361600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:31360000-31361600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:31360000-31361600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:31360000-31361600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr2:31360000-31361600	Active TSS	NHEK	skin
14	chr2:31360000-31361800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:31360000-31361800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr2:31360000-31361800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:31360000-31361800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:31360000-31362000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:31360000-31362000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:31360000-31362000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr2:31360200-31361600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:31360200-31361600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:31360200-31361600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:31360200-31361600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr2:31360200-31361600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr2:31360200-31361600	Bivalent/Poised TSS	Left Ventricle	heart
27	chr2:31360200-31361600	Active TSS	Right Atrium	heart
28	chr2:31360200-31361800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr2:31360200-31361800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:31360200-31361800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:31360200-31361800	Active TSS	Brain Angular Gyrus	brain
32	chr2:31360200-31361800	Active TSS	Colon Smooth Muscle	Colon
33	chr2:31360200-31362000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:31360200-31362000	Active TSS	Brain Cingulate Gyrus	brain
35	chr2:31360400-31361600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr2:31360400-31361600	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr2:31360400-31361600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr2:31360400-31361600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:31360400-31361600	Active TSS	Aorta	Aorta
40	chr2:31360400-31361600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:31360400-31361600	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
42	chr2:31360400-31361800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr2:31360400-31361800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:31360400-31361800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr2:31360400-31361800	Active TSS	Brain Substantia Nigra	brain
46	chr2:31360400-31361800	Flanking Active TSS	Right Ventricle	heart
47	chr2:31360400-31361800	Bivalent/Poised TSS	HSMM	muscle
48	chr2:31360400-31362000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:31360400-31362000	Active TSS	Brain Anterior Caudate	brain
50	chr2:31360600-31361600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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