Variant report

Variant	rs73100519
Chromosome Location	chr1:226191534-226191535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:226191204-226191934	K562	blood:	n/a	n/a
2	YY1	chr1:226191432-226191702	GM12892	blood:	n/a	n/a
3	YY1	chr1:226191393-226191729	GM12878	blood:	n/a	n/a
4	YY1	chr1:226191346-226191703	K562	blood:	n/a	n/a
5	MAFK	chr1:226191402-226191641	K562	blood:	n/a	n/a
6	NR2F2	chr1:226189531-226191682	K562	blood:	n/a	n/a
7	RCOR1	chr1:226191460-226191640	K562	blood:	n/a	n/a
8	TBL1XR1	chr1:226189423-226191594	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:226188590..226191989-chr1:226218669..226223499,6	K562	blood:
2	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
3	chr1:226190413..226192206-chr1:226306899..226308744,2	MCF-7	breast:
4	chr1:226190304..226192131-chr1:226220799..226223499,3	K562	blood:
5	chr1:226185284..226187278-chr1:226190349..226192186,2	MCF-7	breast:
6	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
7	chr1:226188139..226192155-chr1:226228386..226234051,6	K562	blood:
8	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:
9	chr1:226190654..226192155-chr1:226232057..226233716,2	K562	blood:

No data

Variant related genes	Relation type
SDE2	TF binding region
ENSG00000163041	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3795442	0.97[ASN][1000 genomes]
rs6681666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100530	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226188000-226198600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:226188200-226192600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr1:226188200-226192800	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:226188200-226192800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:226188200-226193000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:226188200-226195400	Weak transcription	Right Atrium	heart
7	chr1:226188400-226192600	Enhancers	Fetal Thymus	thymus
8	chr1:226189800-226191800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:226190400-226192400	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:226190400-226192800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:226190600-226191600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:226190600-226192400	Enhancers	Thymus	Thymus
13	chr1:226190600-226192800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:226190600-226192800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:226190600-226192800	Enhancers	GM12878-XiMat	blood
16	chr1:226190800-226191800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:226190800-226192000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:226190800-226192800	Enhancers	Primary B cells from cord blood	blood
19	chr1:226190800-226192800	Enhancers	Primary T cells from cord blood	blood
20	chr1:226190800-226193000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:226190800-226193600	Weak transcription	Hela-S3	cervix
22	chr1:226191000-226191600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:226191000-226191800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:226191000-226192000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:226191000-226192400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:226191000-226192400	Enhancers	K562	blood
27	chr1:226191000-226192600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:226191000-226192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:226191000-226193400	Weak transcription	Placenta	Placenta
30	chr1:226191400-226191600	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:226191400-226191600	Enhancers	Lung	lung
32	chr1:226191400-226192000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr1:226191400-226192800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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