Variant report

Variant	rs12668597
Chromosome Location	chr7:7909513-7909514
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	chr7:7908600..7910763-chr7:7934050..7936742,2	K562	blood:
2	chr7:7908747..7911245-chr7:7915416..7917083,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10241098	0.99[ASN][1000 genomes]
rs10255556	0.96[ASN][1000 genomes]
rs10255802	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10255964	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12665898	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668141	1.00[ASN][1000 genomes]
rs13438161	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13438763	0.99[ASN][1000 genomes]
rs2159831	0.84[ASN][1000 genomes]
rs28419778	0.98[ASN][1000 genomes]
rs34174547	0.90[ASN][1000 genomes]
rs6463741	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954729	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954739	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958752	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959805	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974654	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974658	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979457	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732855	0.97[ASN][1000 genomes]
rs887702	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv523479	chr7:7821594-7909899	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv1027123	chr7:7870047-7926288	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv1793003	chr7:7902171-7911371	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3410361	chr7:7909242-7909774	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7895400-7918000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7897200-7923200	Weak transcription	Psoas Muscle	Psoas
3	chr7:7897200-7942400	Weak transcription	Aorta	Aorta
4	chr7:7901200-7915600	Weak transcription	Gastric	stomach
5	chr7:7907000-7910400	Enhancers	Thymus	Thymus
6	chr7:7907200-7911400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:7907400-7909600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:7907400-7909600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:7907400-7911200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:7907400-7911400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:7907600-7910400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr7:7907600-7911000	Enhancers	Fetal Heart	heart
13	chr7:7907800-7910200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:7907800-7910200	Weak transcription	Right Atrium	heart
15	chr7:7907800-7911200	Enhancers	Fetal Brain Male	brain
16	chr7:7907800-7915200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:7908000-7909600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:7908000-7910200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:7908000-7911600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:7908000-7912000	Enhancers	Brain Germinal Matrix	brain
21	chr7:7908000-7919400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:7908200-7909600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:7908200-7909600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:7908200-7918800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:7908200-7921200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:7908400-7911400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:7908800-7909600	Enhancers	Brain Anterior Caudate	brain
28	chr7:7908800-7909600	Enhancers	Left Ventricle	heart
29	chr7:7908800-7909800	Enhancers	Brain Hippocampus Middle	brain
30	chr7:7908800-7910400	Enhancers	Fetal Muscle Leg	muscle
31	chr7:7908800-7911400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:7909000-7909600	Enhancers	Adipose Nuclei	Adipose
33	chr7:7909000-7910000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:7909000-7910000	Weak transcription	Brain Substantia Nigra	brain
35	chr7:7909000-7910200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:7909000-7910200	Weak transcription	Fetal Thymus	thymus
37	chr7:7909000-7910200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:7909000-7915600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:7909000-7922600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:7909200-7910200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:7909200-7911400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr7:7909400-7912800	Weak transcription	Primary T cells from cord blood	blood
43	chr7:7909400-7922400	Weak transcription	Primary B cells from cord blood	blood

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