Variant report

Variant	rs74131663
Chromosome Location	chr1:184378619-184378620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184354030..184359077-chr1:184375771..184381189,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10911597	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11799574	0.84[EUR][1000 genomes]
rs12116705	0.82[EUR][1000 genomes]
rs12123538	0.84[EUR][1000 genomes]
rs12128343	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12128424	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12129504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12130008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12131730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12132220	0.83[EUR][1000 genomes]
rs12135850	0.84[EUR][1000 genomes]
rs12136470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12138263	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12140904	0.80[EUR][1000 genomes]
rs12142338	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12142568	0.84[EUR][1000 genomes]
rs12142676	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12145326	0.84[EUR][1000 genomes]
rs12354368	0.82[EUR][1000 genomes]
rs13374592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16823133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17576899	0.82[EUR][1000 genomes]
rs17577247	0.82[EUR][1000 genomes]
rs2224029	0.84[EUR][1000 genomes]
rs56173711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59688287	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs60650088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73063509	0.84[EUR][1000 genomes]
rs74131671	0.84[EUR][1000 genomes]
rs74131672	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74131673	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9970469	0.82[EUR][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	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184359000-184382800	Weak transcription	Fetal Stomach	stomach
2	chr1:184359600-184391200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:184360600-184386200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:184362600-184386200	Weak transcription	Lung	lung
5	chr1:184372200-184382800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:184373000-184379000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:184374600-184379200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:184374600-184379200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:184375200-184379200	Weak transcription	Fetal Brain Male	brain
10	chr1:184375400-184379000	Enhancers	Psoas Muscle	Psoas
11	chr1:184375600-184379000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:184375600-184379000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:184375800-184379000	Enhancers	Left Ventricle	heart
14	chr1:184376200-184379000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:184376600-184378800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:184376800-184378800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:184376800-184379000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:184376800-184379000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:184376800-184379000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:184377000-184378800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:184377000-184378800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:184377000-184378800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:184377000-184378800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:184377000-184378800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:184377000-184378800	Enhancers	NHDF-Ad	bronchial
26	chr1:184377000-184379000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:184377000-184379000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:184377000-184379000	Enhancers	Fetal Intestine Large	intestine
29	chr1:184377200-184378800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr1:184377200-184378800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:184377200-184378800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:184377400-184379000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:184377400-184379000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:184377400-184379000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:184377400-184387200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:184377800-184385800	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:184377800-184387000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:184378000-184384600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:184378000-184395600	Weak transcription	Brain Germinal Matrix	brain
40	chr1:184378200-184379000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:184378200-184379200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:184378200-184387000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:184378200-184402400	Weak transcription	Fetal Lung	lung
44	chr1:184378400-184382600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:184378400-184385800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:184378400-184386200	Weak transcription	Right Atrium	heart
47	chr1:184378400-184388200	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:184378400-184394200	Weak transcription	Fetal Intestine Small	intestine
49	chr1:184378400-184397400	Weak transcription	Ovary	ovary
50	chr1:184378600-184380800	Weak transcription	Rectal Mucosa Donor 31	rectum

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