Variant report

Variant	rs603609
Chromosome Location	chr1:226738546-226738547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226736821..226738762-chr1:226750354..226753256,2	K562	blood:
2	chr1:226738145..226740686-chr1:226745688..226748660,2	MCF-7	breast:
3	chr1:226609245..226612312-chr1:226736559..226739618,3	MCF-7	breast:
4	chr1:226637288..226639237-chr1:226736970..226738846,2	MCF-7	breast:
5	chr1:226612018..226612921-chr1:226737871..226738803,5	MCF-7	breast:
6	chr1:226707495..226708460-chr1:226737616..226738711,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17520589	1.00[CHB][hapmap]
rs17520819	1.00[CHB][hapmap]
rs17579954	1.00[CHB][hapmap]
rs17580122	1.00[CHB][hapmap]
rs2126331	1.00[CEU][hapmap]
rs2889481	1.00[CEU][hapmap]
rs58528842	0.82[ASN][1000 genomes]
rs665165	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap]
rs6691873	1.00[CEU][hapmap]
rs708748	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs708749	1.00[CEU][hapmap];1.00[MEX][hapmap]

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	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226736400-226739600	Enhancers	Fetal Brain Male	brain
2	chr1:226736800-226739600	Enhancers	Fetal Heart	heart
3	chr1:226737000-226738600	Enhancers	Lung	lung
4	chr1:226737200-226738600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
5	chr1:226737200-226739000	Bivalent Enhancer	Small Intestine	intestine
6	chr1:226737400-226738600	Bivalent Enhancer	Fetal Thymus	thymus
7	chr1:226737600-226738600	Enhancers	Spleen	Spleen
8	chr1:226737600-226743000	Weak transcription	Aorta	Aorta
9	chr1:226737800-226738600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr1:226737800-226738600	Enhancers	Liver	Liver
11	chr1:226737800-226738600	Bivalent Enhancer	K562	blood
12	chr1:226737800-226739800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr1:226737800-226740000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:226738000-226738600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
15	chr1:226738000-226738600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:226738000-226738600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:226738000-226738600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr1:226738000-226738600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr1:226738000-226738600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:226738000-226738600	Bivalent Enhancer	Placenta	Placenta
21	chr1:226738000-226738600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
22	chr1:226738000-226738600	Enhancers	Right Ventricle	heart
23	chr1:226738000-226739200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:226738000-226739200	Bivalent Enhancer	Fetal Intestine Large	intestine
25	chr1:226738000-226739200	Enhancers	Ovary	ovary
26	chr1:226738000-226739200	Enhancers	Pancreas	Pancrea
27	chr1:226738000-226739400	Enhancers	Brain Substantia Nigra	brain
28	chr1:226738000-226739600	Bivalent Enhancer	Fetal Stomach	stomach
29	chr1:226738000-226740600	Enhancers	Fetal Intestine Small	intestine
30	chr1:226738200-226738600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
31	chr1:226738200-226738600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:226738200-226738600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr1:226738200-226738600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
34	chr1:226738200-226738600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr1:226738200-226739200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr1:226738200-226739200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:226738200-226739200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:226738200-226739200	Enhancers	Brain Anterior Caudate	brain
39	chr1:226738200-226739200	Enhancers	Colonic Mucosa	Colon
40	chr1:226738200-226739200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
41	chr1:226738200-226739200	Active TSS	Rectal Smooth Muscle	rectum
42	chr1:226738200-226739400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr1:226738200-226739400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr1:226738200-226739800	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:226738200-226739800	Enhancers	Colon Smooth Muscle	Colon
46	chr1:226738200-226740000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:226738200-226740000	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr1:226738200-226741800	Enhancers	Brain Germinal Matrix	brain
49	chr1:226738400-226738600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr1:226738400-226739000	Weak transcription	Right Atrium	heart

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