Variant report

Variant	rs6945787
Chromosome Location	chr7:107248168-107248169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107235719..107242565-chr7:107244340..107248517,9	K562	blood:
2	chr7:107246999..107250593-chr7:107255089..107256858,3	MCF-7	breast:
3	chr7:107240582..107242990-chr7:107247762..107249793,2	K562	blood:
4	chr7:107246129..107248247-chr7:107257842..107260078,2	MCF-7	breast:
5	chr7:107220649..107224781-chr7:107243854..107248319,6	K562	blood:

Variant related genes	Relation type
ENSG00000075790	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17154063	0.82[EUR][1000 genomes]
rs59491009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59542667	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59650342	0.86[EUR][1000 genomes]
rs59650878	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66577901	0.91[EUR][1000 genomes]
rs67754921	0.91[EUR][1000 genomes]
rs67869824	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs67921365	0.88[EUR][1000 genomes]
rs6957510	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73187364	0.82[EUR][1000 genomes]
rs73187367	0.86[EUR][1000 genomes]
rs73187370	0.86[EUR][1000 genomes]
rs73189572	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73189576	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73189577	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73189582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73189583	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73189586	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73189592	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73189594	0.86[EUR][1000 genomes]
rs73189601	0.86[EUR][1000 genomes]
rs73189602	0.86[EUR][1000 genomes]
rs73191603	0.86[EUR][1000 genomes]
rs73191605	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73191606	0.86[EUR][1000 genomes]
rs73191607	0.86[EUR][1000 genomes]
rs73191610	0.86[EUR][1000 genomes]
rs73191611	0.83[EUR][1000 genomes]
rs73419448	0.83[EUR][1000 genomes]
rs7777628	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7786360	0.86[EUR][1000 genomes]
rs7789746	0.86[EUR][1000 genomes]
rs7790596	0.84[EUR][1000 genomes]
rs7790876	0.86[EUR][1000 genomes]
rs7791196	0.86[EUR][1000 genomes]
rs7802519	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107221200-107272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:107221400-107253800	Weak transcription	Ovary	ovary
3	chr7:107221400-107254200	Weak transcription	Thymus	Thymus
4	chr7:107221400-107256400	Weak transcription	Lung	lung
5	chr7:107221400-107272400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:107221400-107276000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:107221600-107254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:107221800-107249400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:107222400-107258200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:107223000-107254400	Weak transcription	Brain Germinal Matrix	brain
11	chr7:107223400-107256800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:107223600-107254400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:107223600-107256600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:107225600-107254000	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:107226200-107254000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:107226800-107254200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:107226800-107254800	Weak transcription	Fetal Thymus	thymus
18	chr7:107227800-107253800	Weak transcription	Brain Angular Gyrus	brain
19	chr7:107227800-107265400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:107229600-107249600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:107230200-107256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:107233600-107256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:107235200-107271800	Weak transcription	Small Intestine	intestine
24	chr7:107235800-107249400	Weak transcription	Aorta	Aorta
25	chr7:107235800-107254000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:107235800-107254400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:107235800-107268200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:107236000-107249200	Weak transcription	Fetal Lung	lung
29	chr7:107236000-107249400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:107236000-107249800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:107236000-107254400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:107236000-107254600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:107236000-107262800	Weak transcription	GM12878-XiMat	blood
34	chr7:107236000-107270800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:107236200-107249400	Weak transcription	Fetal Kidney	kidney
36	chr7:107236400-107255000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:107236400-107256600	Weak transcription	A549	lung
38	chr7:107236600-107254000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:107236800-107249200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:107237200-107254400	Weak transcription	NHLF	lung
41	chr7:107237600-107250400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:107237600-107252600	Weak transcription	Fetal Intestine Small	intestine
43	chr7:107237800-107254200	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:107237800-107254400	Weak transcription	Pancreas	Pancrea
45	chr7:107238000-107249400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:107238000-107249400	Weak transcription	Primary T cells from cord blood	blood
47	chr7:107238000-107249400	Weak transcription	Right Atrium	heart
48	chr7:107238000-107254000	Weak transcription	HSMMtube	muscle
49	chr7:107238000-107254400	Weak transcription	Psoas Muscle	Psoas
50	chr7:107238000-107272000	Weak transcription	Esophagus	oesophagus

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