Variant report

Variant	rs11799574
Chromosome Location	chr1:184391279-184391280
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184387289..184390944-chr1:184391179..184396690,9	MCF-7	breast:
2	chr1:184354551..184358785-chr1:184391255..184395551,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271387	Chromatin interaction
ENSG00000116667	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10911597	0.97[EUR][1000 genomes]
rs12123538	1.00[CEU][hapmap]
rs12128343	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12128424	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs12129504	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12130008	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12135850	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12136470	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12138263	0.94[EUR][1000 genomes]
rs12142338	0.97[EUR][1000 genomes]
rs12142568	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12142676	0.97[EUR][1000 genomes]
rs12145326	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374592	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16823133	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs17577247	1.00[CEU][hapmap]
rs2224029	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41263668	0.85[EUR][1000 genomes]
rs59688287	0.94[EUR][1000 genomes]
rs73063509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131663	0.84[EUR][1000 genomes]
rs74131671	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131672	0.97[EUR][1000 genomes]
rs74131673	0.97[EUR][1000 genomes]
rs7531736	0.85[GIH][hapmap]
rs9970469	1.00[CEU][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184378000-184395600	Weak transcription	Brain Germinal Matrix	brain
2	chr1:184378200-184402400	Weak transcription	Fetal Lung	lung
3	chr1:184378400-184394200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:184378400-184397400	Weak transcription	Ovary	ovary
5	chr1:184379000-184393000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:184383600-184394200	Weak transcription	Spleen	Spleen
7	chr1:184383800-184412400	Weak transcription	Fetal Stomach	stomach
8	chr1:184384400-184392000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:184385800-184392000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:184386400-184392000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:184386400-184393600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:184386600-184391800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:184386600-184393200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:184386600-184393600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:184387000-184397000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:184387000-184400200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:184387200-184397800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:184387200-184403400	Weak transcription	Aorta	Aorta
19	chr1:184387600-184394400	Weak transcription	Lung	lung
20	chr1:184387600-184394600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:184388000-184400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:184388400-184391400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:184388400-184397400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:184389000-184395200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:184389200-184391400	Weak transcription	Adipose Nuclei	Adipose
26	chr1:184389200-184391800	Weak transcription	Stomach Mucosa	stomach
27	chr1:184389200-184392800	Weak transcription	Placenta	Placenta
28	chr1:184389200-184393800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:184389200-184394600	Weak transcription	Right Ventricle	heart
30	chr1:184389200-184395800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:184389200-184399800	Weak transcription	A549	lung
32	chr1:184389400-184395400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:184389400-184397800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:184389400-184399400	Weak transcription	NHLF	lung
35	chr1:184389600-184391800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:184389600-184394600	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:184389800-184391600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:184389800-184393600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:184390200-184391800	Enhancers	Psoas Muscle	Psoas
40	chr1:184390200-184392600	Weak transcription	HMEC	breast
41	chr1:184390400-184391600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:184390400-184391800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:184390400-184392200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:184390600-184391800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:184390600-184393800	Weak transcription	Left Ventricle	heart
46	chr1:184390600-184401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:184390800-184391400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:184390800-184391600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:184390800-184391800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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