Variant report

Variant	rs6700709
Chromosome Location	chr1:184378230-184378231
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184354030..184359077-chr1:184375771..184381189,10	MCF-7	breast:
2	chr1:144533567..144534586-chr1:184377390..184378390,5	HCT-116	colon:
3	chr1:184354588..184357826-chr1:184375117..184378478,3	MCF-7	breast:
4	chr1:144533852..144534586-chr1:184377390..184378370,3	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10157833	0.89[EUR][1000 genomes]
rs10797966	0.93[EUR][1000 genomes]
rs10911591	0.82[ASN][1000 genomes]
rs10911594	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11802306	0.90[EUR][1000 genomes]
rs11810399	0.90[EUR][1000 genomes]
rs12063636	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12070787	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12085285	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12088034	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12117332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535135	0.80[EUR][1000 genomes]
rs16823101	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1884201	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1884202	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1884203	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2207523	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4326589	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4631655	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57073878	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61502552	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6424950	0.87[ASN][1000 genomes]
rs6660217	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6666696	0.91[EUR][1000 genomes]
rs6678278	0.80[AFR][1000 genomes]
rs6688074	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6691784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6696270	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs732959	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7415961	0.87[ASN][1000 genomes]
rs7512266	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7538587	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7548074	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][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:71 , 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	chr1:184371800-184378400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:184372200-184382800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:184373000-184379000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:184374600-184379200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:184374600-184379200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:184375200-184379200	Weak transcription	Fetal Brain Male	brain
11	chr1:184375400-184379000	Enhancers	Psoas Muscle	Psoas
12	chr1:184375600-184379000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:184375600-184379000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:184375800-184379000	Enhancers	Left Ventricle	heart
15	chr1:184376000-184378400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:184376200-184378400	Enhancers	Stomach Mucosa	stomach
17	chr1:184376200-184379000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:184376600-184378800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:184376800-184378400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:184376800-184378600	Enhancers	NHEK	skin
21	chr1:184376800-184378800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:184376800-184379000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:184376800-184379000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:184376800-184379000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:184377000-184378400	Enhancers	Fetal Intestine Small	intestine
26	chr1:184377000-184378600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:184377000-184378600	Enhancers	Placenta	Placenta
28	chr1:184377000-184378600	Enhancers	Stomach Smooth Muscle	stomach
29	chr1:184377000-184378600	Enhancers	NHLF	lung
30	chr1:184377000-184378600	Enhancers	Osteobl	bone
31	chr1:184377000-184378800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:184377000-184378800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:184377000-184378800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:184377000-184378800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:184377000-184378800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:184377000-184378800	Enhancers	NHDF-Ad	bronchial
37	chr1:184377000-184379000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:184377000-184379000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:184377000-184379000	Enhancers	Fetal Intestine Large	intestine
40	chr1:184377200-184378400	Enhancers	Fetal Heart	heart
41	chr1:184377200-184378600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:184377200-184378600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:184377200-184378800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr1:184377200-184378800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:184377200-184378800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:184377400-184378400	Enhancers	NH-A	brain
47	chr1:184377400-184378600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr1:184377400-184378600	Enhancers	HMEC	breast
49	chr1:184377400-184379000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:184377400-184379000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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