Variant report

Variant	rs66702154
Chromosome Location	chr7:7984439-7984440
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7982231..7984516-chr7:7984634..7987020,2	MCF-7	breast:
2	chr7:7969976..7971625-chr7:7983223..7985791,2	MCF-7	breast:
3	chr6:31239462..31239977-chr7:7984426..7984946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204525	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17140477	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17140554	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140599	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151593	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2041363	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34095744	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34819831	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs37949	0.87[ASN][1000 genomes]
rs37950	0.87[ASN][1000 genomes]
rs58586931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59916358	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6463752	0.81[ASN][1000 genomes]
rs67510479	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv525502	chr7:7938596-7996590	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv606048	chr7:7938596-7996590	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7976000-7986200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:7976800-7986200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:7977800-7984800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:7982800-7985800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:7983400-7984600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:7983400-7984600	Enhancers	NHEK	skin
7	chr7:7983400-7985400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:7983600-7984600	Flanking Active TSS	GM12878-XiMat	blood
9	chr7:7983800-7984800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:7983800-7984800	Enhancers	Fetal Lung	lung
11	chr7:7983800-7985000	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:7983800-7985800	Flanking Active TSS	Dnd41	blood
13	chr7:7984000-7984800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:7984000-7984800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr7:7984000-7985000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr7:7984000-7985000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:7984200-7984600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:7984200-7984600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:7984200-7984600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:7984200-7984600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:7984200-7984600	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:7984200-7984800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:7984200-7984800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:7984200-7984800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:7984200-7984800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:7984200-7984800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr7:7984200-7984800	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr7:7984200-7984800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:7984200-7984800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr7:7984200-7984800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr7:7984200-7984800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:7984200-7984800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:7984200-7984800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:7984200-7984800	Enhancers	Brain Cingulate Gyrus	brain
35	chr7:7984200-7984800	Enhancers	Brain Substantia Nigra	brain
36	chr7:7984200-7984800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:7984200-7985000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:7984200-7985000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr7:7984200-7985000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:7984200-7985000	Enhancers	Brain Anterior Caudate	brain
41	chr7:7984200-7985200	Flanking Active TSS	Fetal Thymus	thymus
42	chr7:7984200-7985400	Enhancers	Psoas Muscle	Psoas
43	chr7:7984200-7985800	Enhancers	Fetal Muscle Leg	muscle
44	chr7:7984200-7987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:7984400-7984600	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr7:7984400-7984800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr7:7984400-7985000	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr7:7984400-7985000	Active TSS	Thymus	Thymus
49	chr7:7984400-7985800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:7984400-7985800	Weak transcription	Aorta	Aorta

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