Variant report

Variant	rs12698917
Chromosome Location	chr7:70179714-70179715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70175580..70177405-chr7:70179545..70181681,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12698915	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12698916	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12698918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35858938	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7809880	0.88[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1031761	chr7:70125949-70182744	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv538933	chr7:70125949-70182744	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv1834837	chr7:70171159-70202993	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1839975	chr7:70171159-70202993	Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70161800-70191200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:70162200-70201600	Weak transcription	Primary B cells from cord blood	blood
3	chr7:70166400-70182400	Weak transcription	Thymus	Thymus
4	chr7:70172600-70182600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:70175000-70180200	Weak transcription	Primary T cells from cord blood	blood
6	chr7:70175600-70183800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:70176000-70179800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:70176200-70184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:70176200-70201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:70176400-70189800	Weak transcription	Fetal Intestine Large	intestine
11	chr7:70176400-70192000	Weak transcription	HMEC	breast
12	chr7:70176400-70193800	Weak transcription	NH-A	brain
13	chr7:70176600-70180400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:70176600-70180600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:70176600-70180600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:70176600-70181600	Weak transcription	Fetal Thymus	thymus
17	chr7:70176600-70182800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:70176800-70182200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:70176800-70185200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:70176800-70185400	Weak transcription	HSMMtube	muscle
21	chr7:70177400-70179800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:70177400-70179800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr7:70177400-70180400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:70177600-70180000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr7:70178000-70180200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:70178200-70182200	Weak transcription	Lung	lung
27	chr7:70178200-70183800	Weak transcription	Dnd41	blood
28	chr7:70178400-70182000	Weak transcription	Fetal Brain Male	brain
29	chr7:70178400-70182600	Weak transcription	Psoas Muscle	Psoas
30	chr7:70178400-70182600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:70178400-70182800	Weak transcription	Gastric	stomach
32	chr7:70178400-70184800	Weak transcription	Fetal Heart	heart
33	chr7:70178600-70179800	Weak transcription	Liver	Liver
34	chr7:70178600-70182600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:70178800-70180200	ZNF genes & repeats	Fetal Muscle Leg	muscle
36	chr7:70179000-70179800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
37	chr7:70179000-70180000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr7:70179000-70180000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:70179200-70179800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:70179200-70180000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr7:70179200-70180200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:70179200-70180200	ZNF genes & repeats	GM12878-XiMat	blood
43	chr7:70179400-70179800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:70179400-70179800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
45	chr7:70179400-70179800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
46	chr7:70179400-70179800	ZNF genes & repeats	Brain Angular Gyrus	brain
47	chr7:70179400-70179800	ZNF genes & repeats	Brain Germinal Matrix	brain
48	chr7:70179400-70179800	ZNF genes & repeats	Esophagus	oesophagus
49	chr7:70179400-70180000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:70179400-70180000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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