Variant report

Variant	rs4653638
Chromosome Location	chr1:225627509-225627510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225621659..225624533-chr1:225625428..225627724,2	K562	blood:
2	chr1:225627461..225630460-chr1:226249522..226252499,2	K562	blood:
3	chr1:225614179..225618111-chr1:225627420..225635153,13	K562	blood:
4	chr1:225626720..225628379-chr1:225647904..225650755,2	K562	blood:
5	chr1:225625723..225627674-chr1:225628168..225630049,2	K562	blood:
6	chr1:225625909..225628498-chr1:225632163..225635027,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000143815	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10799310	0.87[EUR][1000 genomes]
rs10915831	0.93[EUR][1000 genomes]
rs12034829	0.87[JPT][hapmap]
rs12071529	0.84[EUR][1000 genomes]
rs1340865	0.93[JPT][hapmap]
rs1890999	0.83[EUR][1000 genomes]
rs1891000	0.87[JPT][hapmap]
rs2185528	0.92[EUR][1000 genomes]
rs4233220	0.87[EUR][1000 genomes]
rs4554690	0.86[EUR][1000 genomes]
rs4653640	0.93[EUR][1000 genomes]
rs499782	0.82[JPT][hapmap]
rs6426075	1.00[CEU][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes]
rs6692054	0.87[EUR][1000 genomes]
rs72750896	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225619600-225629000	Weak transcription	Spleen	Spleen
2	chr1:225624400-225628200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:225624400-225629000	Weak transcription	GM12878-XiMat	blood
4	chr1:225624600-225627600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:225624800-225627600	Weak transcription	HepG2	liver
6	chr1:225625400-225636000	Enhancers	Colon Smooth Muscle	Colon
7	chr1:225625800-225627600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:225626000-225627600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:225626000-225629000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:225626000-225629400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:225626000-225636200	Enhancers	Fetal Intestine Large	intestine
12	chr1:225626200-225629000	Weak transcription	Primary B cells from cord blood	blood
13	chr1:225626200-225629200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:225626200-225629200	Weak transcription	Fetal Kidney	kidney
15	chr1:225626400-225627800	Weak transcription	Stomach Mucosa	stomach
16	chr1:225626400-225628600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:225626400-225629000	Weak transcription	Lung	lung
18	chr1:225626400-225630600	Weak transcription	Hela-S3	cervix
19	chr1:225626600-225627800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:225626600-225628400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr1:225626600-225628800	Weak transcription	K562	blood
22	chr1:225626600-225631000	Weak transcription	Fetal Stomach	stomach
23	chr1:225626800-225628000	Weak transcription	Pancreas	Pancrea
24	chr1:225626800-225628000	Weak transcription	Thymus	Thymus
25	chr1:225626800-225628600	Weak transcription	Colonic Mucosa	Colon
26	chr1:225626800-225629000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:225626800-225629000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:225626800-225629400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:225626800-225630000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:225627000-225628000	Weak transcription	Fetal Thymus	thymus
31	chr1:225627000-225629800	Weak transcription	Dnd41	blood

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