Variant report

Variant	rs35119735
Chromosome Location	chr1:113007025-113007026
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:113006438-113009689	U87	brain:	n/a	n/a
2	POLR2A	chr1:113006972-113007221	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:113006990-113007343	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr1:113006988-113007594	MCF-7	breast:	n/a	n/a
5	MAX	chr1:113006873-113007596	MCF-7	breast:	n/a	n/a
6	GATA3	chr1:113006915-113007653	MCF-7	breast:	n/a	n/a
7	TCF7L2	chr1:113006904-113007563	MCF-7	breast:	n/a	chr1:113007224-113007233 chr1:113007220-113007236 chr1:113007224-113007234 chr1:113007221-113007235 chr1:113007220-113007236 chr1:113007221-113007235
8	MAX	chr1:113006900-113007713	MCF-7	breast:	n/a	chr1:113007702-113007712
9	POLR2A	chr1:113006420-113009752	U87	brain:	n/a	n/a
10	POLR2A	chr1:113006799-113007437	HUVEC	blood vessel:	n/a	n/a
11	NR2F2	chr1:113006894-113007710	MCF-7	breast:	n/a	n/a
12	POLR2A	chr1:113007017-113007650	H1-neurons	neurons:	n/a	n/a
13	NR2F2	chr1:113006887-113007658	MCF-7	breast:	n/a	n/a
14	POLR2A	chr1:113006980-113007257	H1-hESC	embryonic stem cell:	n/a	n/a
15	GATA3	chr1:113006811-113007686	MCF-7	breast:	n/a	chr1:113007656-113007666
16	HDAC2	chr1:113006928-113007657	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:113006142-113009391	HUVEC	blood vessel:	n/a	n/a
18	ZNF217	chr1:113006996-113007574	MCF-7	breast:	n/a	n/a
19	POLR2A	chr1:113006630-113010006	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr1:113006829-113010068	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr1:113006497-113007275	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr1:113006410-113009200	Hela-S3	cervix:	n/a	n/a
23	ZNF263	chr1:113006973-113007506	HEK293-T-REx	kidney:	n/a	chr1:113007128-113007137 chr1:113007114-113007135
24	POLR2A	chr1:113006998-113007234	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:113006780-113007701	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr1:113006915-113007569	ProgFib	skin:	n/a	n/a
27	POLR2A	chr1:113006910-113007852	MCF-7	breast:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:112936667..112940657-chr1:113004024..113011069,20	MCF-7	breast:
2	chr1:113004968..113007930-chr1:113157239..113158871,3	MCF-7	breast:
3	chr1:113005895..113008682-chr1:113248118..113250276,4	MCF-7	breast:
4	chr1:112993731..112996050-chr1:113005952..113008136,2	K562	blood:
5	chr1:113002255..113010411-chr1:113160144..113164475,13	MCF-7	breast:
6	chr1:112935548..112944315-chr1:113002393..113010397,28	MCF-7	breast:
7	chr1:113005689..113009641-chr1:113216362..113218803,3	MCF-7	breast:
8	chr1:113003059..113010084-chr1:113159503..113164005,9	MCF-7	breast:
9	chr1:113006953..113008825-chr1:113243522..113245594,2	MCF-7	breast:
10	chr1:112938266..112940325-chr1:113005326..113008155,2	K562	blood:
11	chr1:113000439..113002473-chr1:113006145..113008563,2	MCF-7	breast:
12	chr1:113006478..113010487-chr1:113159582..113162671,3	K562	blood:
13	chr1:112970749..112973658-chr1:113006314..113008591,2	K562	blood:
14	chr1:112930286..112934243-chr1:113005745..113008841,3	MCF-7	breast:
15	chr1:113006478..113009017-chr1:113160581..113162671,2	K562	blood:
16	chr1:112961598..112963663-chr1:113006569..113008667,2	MCF-7	breast:

No data

Variant related genes	Relation type
WNT2B	TF binding region
ENSG00000143079	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000155366	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000116489	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12727145	1.00[ASN][1000 genomes]
rs12729635	1.00[ASN][1000 genomes]
rs12737053	1.00[ASN][1000 genomes]
rs34961977	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34989396	1.00[ASN][1000 genomes]
rs351366	1.00[ASN][1000 genomes]
rs35735679	1.00[ASN][1000 genomes]
rs35947845	1.00[ASN][1000 genomes]
rs36087180	1.00[ASN][1000 genomes]
rs71644398	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112988800-113008400	Weak transcription	A549	lung
2	chr1:112994600-113008800	Weak transcription	Psoas Muscle	Psoas
3	chr1:112994800-113008600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:112999400-113008000	Weak transcription	Right Atrium	heart
5	chr1:112999800-113008200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:113000000-113007800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:113000000-113008400	Weak transcription	Pancreas	Pancrea
8	chr1:113000000-113008400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:113000000-113008400	Weak transcription	Dnd41	blood
10	chr1:113000200-113007200	Weak transcription	Spleen	Spleen
11	chr1:113000200-113008200	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:113000200-113008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:113000200-113009600	Weak transcription	Small Intestine	intestine
14	chr1:113000400-113007800	Weak transcription	Fetal Brain Male	brain
15	chr1:113000400-113008200	Weak transcription	Brain Germinal Matrix	brain
16	chr1:113000600-113008400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:113000800-113008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:113000800-113008400	Weak transcription	Right Ventricle	heart
19	chr1:113001000-113007800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:113001200-113008600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:113001400-113008000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:113001400-113008000	Weak transcription	Hela-S3	cervix
23	chr1:113001600-113007400	Weak transcription	Brain Substantia Nigra	brain
24	chr1:113001600-113008000	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:113001600-113008200	Weak transcription	Fetal Stomach	stomach
26	chr1:113001600-113008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:113001600-113008400	Weak transcription	Ovary	ovary
28	chr1:113001600-113008600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:113001600-113009000	Weak transcription	Aorta	Aorta
30	chr1:113001800-113007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:113001800-113008200	Weak transcription	Fetal Brain Female	brain
32	chr1:113002000-113007800	Weak transcription	Brain Angular Gyrus	brain
33	chr1:113002000-113008200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:113002000-113008200	Weak transcription	Left Ventricle	heart
35	chr1:113002000-113008200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:113002000-113008400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:113002200-113007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:113002800-113008600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:113004000-113007800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:113004000-113009600	Enhancers	Placenta	Placenta
41	chr1:113004200-113007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:113004400-113008000	Weak transcription	NH-A	brain
43	chr1:113004600-113007400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:113004600-113007800	Weak transcription	NHDF-Ad	bronchial
45	chr1:113004600-113007800	Weak transcription	NHLF	lung
46	chr1:113004600-113008000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:113004600-113008000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:113004600-113008600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:113005000-113008400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:113005200-113008000	Weak transcription	Adipose Nuclei	Adipose

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