Variant report

Variant	rs4279885
Chromosome Location	chr1:149936911-149936912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149857346..149860255-chr1:149936527..149938458,4	K562	blood:
2	chr1:149912344..149915239-chr1:149936515..149940738,3	MCF-7	breast:
3	chr1:149906839..149912416-chr1:149930712..149937411,6	K562	blood:
4	chr1:149855178..149861916-chr1:149928782..149939792,19	MCF-7	breast:
5	chr1:149934510..149937424-chr1:149942259..149944443,2	K562	blood:
6	chr1:149856966..149859482-chr1:149935815..149938611,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163113	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10494259	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1061955	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11205313	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs11205314	1.00[AMR][1000 genomes]
rs12022928	0.91[YRI][hapmap]
rs12060171	1.00[AMR][1000 genomes]
rs12060830	0.95[YRI][hapmap]
rs12064434	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12082035	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091025	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs12091858	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs12091904	1.00[AMR][1000 genomes]
rs16833063	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833149	0.91[YRI][hapmap]
rs16833175	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs16833178	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs16833279	1.00[CHB][hapmap]
rs16838432	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58342123	1.00[AMR][1000 genomes]
rs74126211	1.00[AMR][1000 genomes]
rs7517085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804143	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9988489	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
2	chr1:149912600-149941600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:149914400-149937400	Weak transcription	Fetal Heart	heart
4	chr1:149915000-149937600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:149921200-149942600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:149922200-149937400	Weak transcription	Colonic Mucosa	Colon
7	chr1:149922200-149937600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:149922400-149951600	Weak transcription	Small Intestine	intestine
9	chr1:149929400-149940000	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:149929400-149948400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr1:149929600-149940200	Strong transcription	HUVEC	blood vessel
12	chr1:149929600-149950200	Strong transcription	Osteobl	bone
13	chr1:149930000-149940000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr1:149930200-149937400	Weak transcription	Spleen	Spleen
15	chr1:149930400-149943600	Strong transcription	Fetal Stomach	stomach
16	chr1:149930600-149939800	Strong transcription	NHDF-Ad	bronchial
17	chr1:149930800-149959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:149931800-149937400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:149931800-149946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:149931800-149949600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:149931800-149949800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:149932000-149937400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:149932000-149949200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:149932000-149949600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:149932200-149937200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:149932200-149937200	Weak transcription	Fetal Brain Female	brain
27	chr1:149932200-149937400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:149932200-149937400	Weak transcription	HMEC	breast
29	chr1:149932200-149942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:149933000-149939800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:149933000-149945400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:149933200-149947000	Strong transcription	Fetal Intestine Large	intestine
33	chr1:149933200-149949600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:149933600-149937200	Weak transcription	Fetal Kidney	kidney
35	chr1:149933800-149937200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:149934200-149958000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:149934400-149938000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:149934400-149938200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:149934400-149940800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:149934400-149949600	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:149934600-149937400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:149934600-149937400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:149934600-149937400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:149934600-149937400	Weak transcription	Stomach Mucosa	stomach
45	chr1:149934600-149937800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:149934600-149937800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:149934600-149938000	Weak transcription	Primary T cells from cord blood	blood
48	chr1:149934600-149940000	Strong transcription	Placenta	Placenta
49	chr1:149934600-149941200	Weak transcription	Fetal Thymus	thymus
50	chr1:149934600-149947600	Weak transcription	Primary B cells from peripheral blood	blood

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