Variant report

Variant	rs12702649
Chromosome Location	chr7:7819972-7819973
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	chr7:7800268..7802806-chr7:7819669..7821232,2	MCF-7	breast:
2	chr7:7818939..7821882-chr7:8008845..8011051,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11978293	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12702648	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12702650	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12702651	0.85[EUR][1000 genomes]
rs13230742	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13233739	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13240854	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725026	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6463718	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463720	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944658	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6953820	0.88[ASN][1000 genomes]
rs6961088	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv887489	chr7:7770203-7913311	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv887490	chr7:7801684-7908970	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7802400-7829800	Weak transcription	Left Ventricle	heart
2	chr7:7802400-7841400	Weak transcription	Ovary	ovary
3	chr7:7802600-7836600	Weak transcription	Aorta	Aorta
4	chr7:7805400-7854400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:7812400-7854600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:7812600-7821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:7812600-7822200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:7812800-7822600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:7813200-7822600	Weak transcription	Brain Angular Gyrus	brain
10	chr7:7813800-7829400	Weak transcription	Primary T cells from cord blood	blood
11	chr7:7814000-7822400	Weak transcription	Fetal Thymus	thymus
12	chr7:7814000-7828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:7814600-7830800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:7814800-7823000	Weak transcription	Brain Germinal Matrix	brain
15	chr7:7814800-7829400	Weak transcription	Primary B cells from cord blood	blood
16	chr7:7817800-7829800	Weak transcription	HMEC	breast
17	chr7:7819000-7820000	Enhancers	Stomach Mucosa	stomach
18	chr7:7819000-7820400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:7819000-7820400	Enhancers	HUVEC	blood vessel
20	chr7:7819400-7820000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:7819600-7820000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:7819600-7820000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:7819600-7820000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:7819600-7820000	Enhancers	GM12878-XiMat	blood
25	chr7:7819600-7820000	Enhancers	HepG2	liver
26	chr7:7819600-7820200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:7819600-7820400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:7819600-7820400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:7819600-7820400	Enhancers	NHEK	skin
30	chr7:7819800-7820000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:7819800-7820000	Enhancers	Primary hematopoietic stem cells	blood
32	chr7:7819800-7820000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:7819800-7820000	Enhancers	Fetal Stomach	stomach
34	chr7:7819800-7820000	Enhancers	Spleen	Spleen
35	chr7:7819800-7820200	Enhancers	A549	lung
36	chr7:7819800-7822400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:7819800-7822600	Weak transcription	Brain Cingulate Gyrus	brain

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