Variant report

Variant	rs6974046
Chromosome Location	chr7:66343304-66343305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr7:66342588-66343304	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66333809..66336428-chr7:66342032..66344327,2	K562	blood:

Variant related genes	Relation type
ENSG00000230295	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10950054	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10950055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11762354	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11766583	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12666079	0.87[AFR][1000 genomes]
rs12668022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12673366	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17747939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17748121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17748198	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2901267	0.82[ASN][1000 genomes]
rs35244862	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735155	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3800815	0.85[ASN][1000 genomes]
rs3823610	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4717322	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4718385	1.00[ASW][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4718410	0.95[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4718429	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4718433	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs6944703	1.00[ASW][hapmap]
rs6960230	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6966953	0.87[AFR][1000 genomes]
rs6970767	0.82[ASN][1000 genomes]
rs6979167	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs73139927	0.82[ASN][1000 genomes]
rs73139974	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73377594	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66311000-66345800	Weak transcription	HSMMtube	muscle
2	chr7:66311000-66349400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:66311000-66358400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:66317200-66364400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:66319400-66364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:66321200-66367800	Weak transcription	Aorta	Aorta
10	chr7:66322400-66364200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:66324400-66363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:66325200-66360200	Weak transcription	Psoas Muscle	Psoas
13	chr7:66325200-66366400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:66325400-66351200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:66325400-66366400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:66325400-66369400	Weak transcription	Fetal Brain Female	brain
17	chr7:66325600-66345200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:66325600-66359000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:66325600-66363600	Weak transcription	Primary B cells from cord blood	blood
20	chr7:66325600-66363600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:66325600-66373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:66325800-66343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:66325800-66344200	Weak transcription	Left Ventricle	heart
24	chr7:66325800-66344200	Weak transcription	Pancreas	Pancrea
25	chr7:66325800-66344400	Weak transcription	NHEK	skin
26	chr7:66325800-66350000	Weak transcription	Dnd41	blood
27	chr7:66325800-66352800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:66325800-66359600	Weak transcription	Spleen	Spleen
29	chr7:66325800-66363400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:66325800-66363400	Weak transcription	Brain Substantia Nigra	brain
31	chr7:66325800-66365800	Weak transcription	Esophagus	oesophagus
32	chr7:66325800-66366400	Weak transcription	Right Ventricle	heart
33	chr7:66325800-66367000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:66325800-66367600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr7:66326000-66343800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:66326000-66349600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr7:66326000-66362000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:66326000-66363600	Weak transcription	Gastric	stomach
39	chr7:66326400-66358200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr7:66326400-66362600	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:66326400-66363000	Weak transcription	Lung	lung
42	chr7:66326400-66368200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:66326400-66371800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:66326600-66363000	Weak transcription	Fetal Stomach	stomach
45	chr7:66326800-66344400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:66327000-66348800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:66328200-66367000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:66329600-66362000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:66329800-66372000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:66330400-66366000	Weak transcription	Fetal Thymus	thymus

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