Variant report

Variant	rs61559246
Chromosome Location	chr1:161009779-161009780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161009434-161009841	K562	blood:	n/a	n/a
2	POLR2A	chr1:161009108-161009819	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161009753-161009803	NH-A	brain:	n/a
2	chr1:161009753-161009803	AG10803	skin:	n/a
3	chr1:161009753-161009803	BJ	skin:	n/a
4	chr1:161009753-161009803	HEEpiC	esophagus:	n/a
5	chr1:161009753-161009803	HNPCEpiC	eye:	n/a
6	chr1:161009753-161009803	GM12892	blood:	n/a
7	chr1:161009753-161009803	PFSK-1	brain:	n/a
8	chr1:161009753-161009803	A549	lung:	n/a
9	chr1:161009753-161009803	T-47D	breast:	n/a
10	chr1:161009753-161009803	CMK	blood:	n/a
11	chr1:161009753-161009803	HAEpiC	amniotic membrane:	n/a
12	chr1:161009753-161009803	ovcar-3	ovarian:	n/a
13	chr1:161009753-161009803	SK-N-SH_RA	brain:	n/a
14	chr1:161009753-161009803	HCPEpiC	choroid plexus:	n/a
15	chr1:161009753-161009803	PANC-1	pancreas:	n/a
16	chr1:161009753-161009803	SK-N-MC	brain:	n/a
17	chr1:161009753-161009803	SKMC	muscle:	n/a
18	chr1:161009753-161009803	AG04450	lung:	fetal
19	chr1:161009753-161009803	HCM	heart:	n/a
20	chr1:161009753-161009803	GM06990	blood:	n/a
21	chr1:161009753-161009803	Jurkat	blood:	n/a
22	chr1:161009753-161009803	ECC-1	luminal epithelium:	n/a
23	chr1:161009753-161009803	NT2-D1	testis:	n/a
24	chr1:161009753-161009803	Caco-2	colon:	n/a
25	chr1:161009753-161009803	HUVEC	blood vessel:	n/a
26	chr1:161009753-161009803	SK-N-SH	brain:	n/a
27	chr1:161009753-161009803	HRCEpiC	kidney:	n/a
28	chr1:161009753-161009803	U87	brain:	n/a
29	chr1:161009753-161009803	AG04449	skin:	fetal
30	chr1:161009753-161009803	HMEC	breast:	n/a
31	chr1:161009753-161009803	HEK293	kidney:	embryo
32	chr1:161009753-161009803	HRPEpiC	eye:	n/a
33	chr1:161009753-161009803	H1-hESC	embryonic stem cell:	embryo
34	chr1:161009753-161009803	K562	blood:	n/a
35	chr1:161009753-161009803	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:161009753-161009803	AoSMC	blood vessel:	n/a
37	chr1:161009753-161009803	HCF	heart:	n/a
38	chr1:161009753-161009803	AG09319	gingival:	n/a
39	chr1:161009753-161009803	HRE	kidney:	n/a
40	chr1:161009753-161009803	SAEC	small airway:	n/a
41	chr1:161009753-161009803	HIPEpiC	eye:	n/a
42	chr1:161009753-161009803	AG09309	skin:	n/a
43	chr1:161009753-161009803	MCF10A-Er-Src	breast:	n/a
44	chr1:161009753-161009803	IMR90	lung:	fetal
45	chr1:161009753-161009803	NHBE	bronchial:	n/a
46	chr1:161009753-161009803	ProgFib	skin:	n/a
47	chr1:161009753-161009803	HL-60	blood:	n/a
48	chr1:161009753-161009803	PrEC	prostate:	n/a
49	chr1:161009753-161009803	HepG2	liver:	n/a
50	chr1:161009753-161009803	BE2_C	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161007165..161010190-chr1:161058502..161060475,3	MCF-7	breast:
2	chr1:160989087..160991942-chr1:161007144..161014242,6	K562	blood:
3	chr1:161006354..161009878-chr1:161042497..161045575,4	MCF-7	breast:
4	chr1:160988819..160994033-chr1:161005548..161011188,8	MCF-7	breast:
5	chr1:161007064..161010778-chr1:161101040..161104167,3	MCF-7	breast:
6	chr1:160989495..160995605-chr1:161004888..161010340,15	MCF-7	breast:
7	chr1:161006846..161009787-chr1:161123441..161125743,2	MCF-7	breast:
8	chr1:160988071..160992174-chr1:161007125..161014242,7	K562	blood:
9	chr1:161005808..161012985-chr1:161064732..161070101,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270149	TF binding region
TSTD1	TF binding region
ENSG00000270149	CpG island
TSTD1	CpG island
ENSG00000143217	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000143222	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv947201	chr1:161006051-161013276	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv548059	chr1:161007326-161010791	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv872492	chr1:161009523-161013152	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161007000-161013400	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:161007400-161013400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:161007400-161013400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:161007400-161013400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:161007400-161013400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:161007600-161013400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:161008000-161013200	Strong transcription	A549	lung
8	chr1:161008000-161013400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:161008200-161013000	Strong transcription	NHLF	lung
10	chr1:161008600-161009800	Weak transcription	Fetal Heart	heart
11	chr1:161008600-161011400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:161008800-161012600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:161008800-161013000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:161008800-161013400	Strong transcription	Brain Cingulate Gyrus	brain
15	chr1:161008800-161014000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:161009000-161009800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:161009000-161009800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:161009000-161009800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:161009000-161010000	Genic enhancers	Colonic Mucosa	Colon
20	chr1:161009000-161010000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:161009000-161010000	Genic enhancers	Fetal Muscle Leg	muscle
22	chr1:161009000-161010000	Genic enhancers	Fetal Thymus	thymus
23	chr1:161009000-161010000	Weak transcription	Ovary	ovary
24	chr1:161009000-161010400	Genic enhancers	Spleen	Spleen
25	chr1:161009000-161011800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:161009000-161012400	Weak transcription	Psoas Muscle	Psoas
27	chr1:161009000-161012600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:161009000-161012800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:161009000-161012800	Strong transcription	Adipose Nuclei	Adipose
30	chr1:161009000-161013200	Strong transcription	Osteobl	bone
31	chr1:161009000-161013400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:161009000-161013400	Strong transcription	Fetal Stomach	stomach
33	chr1:161009000-161014000	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr1:161009200-161009800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:161009200-161009800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:161009200-161009800	Genic enhancers	Fetal Lung	lung
37	chr1:161009200-161009800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:161009200-161009800	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr1:161009200-161010000	Genic enhancers	Primary B cells from cord blood	blood
40	chr1:161009200-161010000	Genic enhancers	Primary T cells from cord blood	blood
41	chr1:161009200-161010000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:161009200-161010000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
43	chr1:161009200-161010200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:161009200-161010200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr1:161009200-161010600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:161009200-161012400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr1:161009200-161012600	Strong transcription	Colon Smooth Muscle	Colon
48	chr1:161009200-161012800	Strong transcription	Aorta	Aorta
49	chr1:161009200-161012800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:161009200-161013000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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