Variant report

Variant	rs73981064
Chromosome Location	chr2:191209450-191209451
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	SMC3	chr2:191208441-191209614	SK-N-SH	brain:	n/a	chr2:191208655-191208665
2	GATA3	chr2:191209340-191209959	SK-N-SH	brain:	n/a	chr2:191209893-191209900 chr2:191209650-191209666 chr2:191209650-191209666
3	RAD21	chr2:191208803-191209462	HCT-116	colon:	n/a	n/a
4	RFX5	chr2:191208217-191209747	Hela-S3	cervix:	n/a	n/a
5	TEAD4	chr2:191208865-191209596	HepG2	liver:	n/a	n/a
6	RAD21	chr2:191207982-191209672	SK-N-SH	brain:	n/a	n/a
7	MXI1	chr2:191207884-191209582	SK-N-SH	brain:	n/a	n/a
8	REST	chr2:191208318-191209506	H1-neurons	neurons:	n/a	chr2:191208562-191208575
9	MYBL2	chr2:191207973-191209477	HepG2	liver:	n/a	n/a
10	MAFK	chr2:191208997-191209517	HepG2	liver:	n/a	chr2:191209493-191209513
11	POLR2A	chr2:191209354-191209553	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA2	chr2:191208927-191209825	HUVEC	blood vessel:	n/a	chr2:191209650-191209666 chr2:191209652-191209666 chr2:191209650-191209666
13	GATA3	chr2:191209326-191209913	SK-N-SH	brain:	n/a	chr2:191209893-191209900 chr2:191209650-191209666 chr2:191209650-191209666
14	CTCF	chr2:191208190-191209531	SK-N-SH	brain:	n/a	chr2:191209102-191209118

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191209219..191211373-chr2:191219117..191222067,2	MCF-7	breast:
2	chr2:191184511..191186549-chr2:191207772..191209465,2	MCF-7	breast:

Variant related genes	Relation type
HIBCH	TF binding region
ENSG00000151689	Chromatin interaction
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs13388583	1.00[AMR][1000 genomes]
rs1966073	1.00[AMR][1000 genomes]
rs55706833	0.92[AFR][1000 genomes]
rs55927088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56082128	0.85[AFR][1000 genomes]
rs56789262	1.00[AMR][1000 genomes]
rs58038231	1.00[AMR][1000 genomes]
rs58294205	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58593410	0.85[AFR][1000 genomes]
rs59482123	1.00[AMR][1000 genomes]
rs59517548	0.83[AFR][1000 genomes]
rs59822230	0.85[AFR][1000 genomes]
rs61703068	0.83[AFR][1000 genomes]
rs6707066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707597	1.00[AMR][1000 genomes]
rs73978992	1.00[AMR][1000 genomes]
rs73979000	1.00[AMR][1000 genomes]
rs73979204	0.85[AFR][1000 genomes]
rs73981008	1.00[AMR][1000 genomes]
rs73981019	1.00[AMR][1000 genomes]
rs73981029	1.00[AMR][1000 genomes]
rs73981030	1.00[AMR][1000 genomes]
rs73981032	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981034	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981035	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981039	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981055	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981056	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981057	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981067	0.85[AFR][1000 genomes]
rs73981068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981071	0.85[AFR][1000 genomes]
rs73981072	0.85[AFR][1000 genomes]
rs73981079	1.00[AFR][1000 genomes];1.00[AMR][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	esv3405665	chr2:191207532-191210080	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191205800-191216200	Weak transcription	K562	blood
2	chr2:191207400-191210000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr2:191207800-191209600	Active TSS	HSMM	muscle
4	chr2:191208000-191209600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:191208000-191209600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:191208000-191209600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:191208000-191209600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:191208000-191209600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:191208000-191209600	Active TSS	Ovary	ovary
10	chr2:191208000-191209600	Active TSS	Psoas Muscle	Psoas
11	chr2:191208000-191209600	Active TSS	HSMMtube	muscle
12	chr2:191208000-191209800	Active TSS	NH-A	brain
13	chr2:191208000-191210000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:191208000-191210600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr2:191208200-191209600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:191208200-191209600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr2:191208200-191209600	Active TSS	Esophagus	oesophagus
18	chr2:191208200-191209600	Active TSS	Fetal Stomach	stomach
19	chr2:191208200-191209800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr2:191208200-191209800	Active TSS	Right Ventricle	heart
21	chr2:191208200-191209800	Active TSS	Hela-S3	cervix
22	chr2:191208200-191210000	Active TSS	Right Atrium	heart
23	chr2:191208200-191210400	Active TSS	NHDF-Ad	bronchial
24	chr2:191208200-191210400	Active TSS	NHLF	lung
25	chr2:191208400-191209600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:191208400-191209800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:191208400-191209800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:191208600-191209600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr2:191208600-191209600	Active TSS	GM12878-XiMat	blood
30	chr2:191208600-191209800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:191208600-191209800	Active TSS	Stomach Smooth Muscle	stomach
32	chr2:191208800-191209600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr2:191208800-191209800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr2:191209000-191209600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:191209000-191209600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr2:191209000-191209600	Flanking Active TSS	Fetal Thymus	thymus
37	chr2:191209000-191209800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr2:191209000-191209800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:191209000-191209800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr2:191209000-191209800	Flanking Active TSS	Fetal Lung	lung
41	chr2:191209000-191209800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr2:191209000-191210400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:191209200-191209600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr2:191209200-191209600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr2:191209200-191209600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr2:191209200-191209600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:191209200-191209600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr2:191209200-191209600	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr2:191209200-191209600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr2:191209200-191209600	Flanking Active TSS	Fetal Brain Male	brain

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