Variant report

Variant	rs1175638
Chromosome Location	chr1:113006534-113006535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 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	chr1:113006453-113006884	U87	brain:	n/a	n/a
3	POLR2A	chr1:113006238-113006816	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:113006420-113009752	U87	brain:	n/a	n/a
5	POLR2A	chr1:113006430-113006786	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr1:113006142-113009391	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:113006385-113006850	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr1:113006497-113007275	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr1:113006410-113009200	Hela-S3	cervix:	n/a	n/a

No data

(count:15 , 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	chr1:113005044..113006620-chr1:113050392..113051897,2	MCF-7	breast:
9	chr1:113003059..113010084-chr1:113159503..113164005,9	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:

No data

Variant related genes	Relation type
WNT2B	TF binding region
ENSG00000134245	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000155366	Chromatin interaction
ENSG00000143079	Chromatin interaction
ENSG00000007341	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1175647	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28634149	1.00[AMR][1000 genomes]
rs6690564	1.00[AMR][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:97 , 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	chr1:112995800-113007000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:112999400-113008000	Weak transcription	Right Atrium	heart
6	chr1:112999800-113008200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:113000000-113007800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:113000000-113008400	Weak transcription	Pancreas	Pancrea
9	chr1:113000000-113008400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:113000000-113008400	Weak transcription	Dnd41	blood
11	chr1:113000200-113007200	Weak transcription	Spleen	Spleen
12	chr1:113000200-113008200	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:113000200-113008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:113000200-113009600	Weak transcription	Small Intestine	intestine
15	chr1:113000400-113007800	Weak transcription	Fetal Brain Male	brain
16	chr1:113000400-113008200	Weak transcription	Brain Germinal Matrix	brain
17	chr1:113000600-113008400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:113000800-113008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:113000800-113008400	Weak transcription	Right Ventricle	heart
20	chr1:113001000-113007800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:113001200-113008600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:113001400-113008000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:113001400-113008000	Weak transcription	Hela-S3	cervix
24	chr1:113001600-113007000	Weak transcription	Lung	lung
25	chr1:113001600-113007400	Weak transcription	Brain Substantia Nigra	brain
26	chr1:113001600-113008000	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:113001600-113008200	Weak transcription	Fetal Stomach	stomach
28	chr1:113001600-113008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:113001600-113008400	Weak transcription	Ovary	ovary
30	chr1:113001600-113008600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:113001600-113009000	Weak transcription	Aorta	Aorta
32	chr1:113001800-113007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:113001800-113008200	Weak transcription	Fetal Brain Female	brain
34	chr1:113002000-113006600	Strong transcription	HSMM	muscle
35	chr1:113002000-113007000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:113002000-113007800	Weak transcription	Brain Angular Gyrus	brain
37	chr1:113002000-113008200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:113002000-113008200	Weak transcription	Left Ventricle	heart
39	chr1:113002000-113008200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:113002000-113008400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:113002200-113007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:113002800-113008600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:113003000-113006600	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:113003000-113007000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:113003800-113006600	Strong transcription	HSMMtube	muscle
46	chr1:113004000-113007800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:113004000-113009600	Enhancers	Placenta	Placenta
48	chr1:113004200-113007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:113004400-113006600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:113004400-113006800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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