Variant report

Variant	rs6700702
Chromosome Location	chr1:180606599-180606600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180603575..180607305-chr1:180609187..180612669,3	MCF-7	breast:
2	chr1:180599897..180602453-chr1:180605801..180608152,2	MCF-7	breast:
3	chr1:180599683..180601481-chr1:180605734..180607879,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10914067	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11487340	1.00[EUR][1000 genomes]
rs12060106	1.00[EUR][1000 genomes]
rs12063811	1.00[EUR][1000 genomes]
rs12073959	1.00[EUR][1000 genomes]
rs12075181	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12075718	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12079057	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12084966	0.87[EUR][1000 genomes]
rs12238979	1.00[EUR][1000 genomes]
rs12240182	1.00[EUR][1000 genomes]
rs13374649	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28556586	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425649	1.00[CEU][hapmap]
rs6671675	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6692545	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036505	1.00[EUR][1000 genomes]
rs73036508	1.00[EUR][1000 genomes]
rs73047686	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73047695	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049484	1.00[EUR][1000 genomes]
rs73049487	1.00[EUR][1000 genomes]
rs73051218	1.00[EUR][1000 genomes]
rs7553766	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7556291	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180615800	Weak transcription	Lung	lung
2	chr1:180602000-180618800	Weak transcription	Pancreas	Pancrea
3	chr1:180602000-180645200	Weak transcription	Gastric	stomach
4	chr1:180602200-180608200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:180602200-180608200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:180602400-180611000	Weak transcription	Stomach Mucosa	stomach
7	chr1:180602400-180612400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:180602400-180612600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:180603000-180614800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:180603200-180606800	Weak transcription	NH-A	brain
11	chr1:180603200-180612000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:180603200-180614400	Weak transcription	Primary B cells from cord blood	blood
13	chr1:180603200-180615200	Weak transcription	HSMM	muscle
14	chr1:180603200-180615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:180603200-180616400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:180603200-180622400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:180603400-180611200	Weak transcription	Psoas Muscle	Psoas
18	chr1:180603400-180613000	Weak transcription	Ovary	ovary
19	chr1:180603400-180614800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:180603400-180615400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:180603400-180615600	Weak transcription	HUVEC	blood vessel
22	chr1:180603400-180617000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:180603400-180619400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:180603600-180611800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:180603600-180612400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:180603600-180612800	Weak transcription	Aorta	Aorta
27	chr1:180603600-180626400	Weak transcription	Fetal Lung	lung
28	chr1:180603800-180607400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:180603800-180608800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:180603800-180609200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:180603800-180609600	Weak transcription	A549	lung
32	chr1:180603800-180612800	Weak transcription	Primary T cells from cord blood	blood
33	chr1:180603800-180613400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:180603800-180614600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:180604000-180613200	Weak transcription	Brain Germinal Matrix	brain
36	chr1:180604000-180623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:180604800-180609600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:180604800-180617000	Weak transcription	Dnd41	blood
39	chr1:180605000-180609400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:180605000-180609600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:180605000-180611800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:180605000-180612400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:180605600-180607200	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:180605600-180609000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:180605600-180612600	Weak transcription	HMEC	breast
46	chr1:180605600-180625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:180605800-180608600	Weak transcription	K562	blood
48	chr1:180605800-180608800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:180605800-180609000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:180605800-180609400	Weak transcription	Small Intestine	intestine

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