Variant report

Variant	rs6967467
Chromosome Location	chr7:12758646-12758647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12442384..12444889-chr7:12757072..12759296,2	K562	blood:
2	chr7:12757666..12759532-chr7:12853077..12856020,2	K562	blood:
3	chr7:12730040..12735403-chr7:12757431..12760673,6	K562	blood:

Variant related genes	Relation type
ENSG00000146530	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10488229	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10950412	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981294	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546770	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4410798	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949140	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7785696	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801894	0.87[EUR][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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv887641	chr7:12747443-12782062	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12754800-12760400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:12755400-12761800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:12755600-12761800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:12755800-12759600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr7:12755800-12763000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:12756000-12759000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:12756200-12758800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:12756200-12759800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:12756200-12759800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:12756200-12760200	Weak transcription	Esophagus	oesophagus
11	chr7:12756200-12761800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:12756200-12768800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:12756400-12762200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:12756400-12762400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:12756400-12770800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:12756600-12758800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:12756600-12758800	Weak transcription	Fetal Stomach	stomach
18	chr7:12756600-12758800	Weak transcription	Stomach Mucosa	stomach
19	chr7:12756600-12759000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:12756600-12759000	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:12756600-12770800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:12756800-12761800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:12756800-12762200	Weak transcription	Fetal Kidney	kidney
24	chr7:12756800-12766000	Weak transcription	Right Ventricle	heart
25	chr7:12756800-12766800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:12757000-12758800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:12757800-12759000	Enhancers	Fetal Thymus	thymus
28	chr7:12757800-12760400	Enhancers	Placenta	Placenta
29	chr7:12758000-12760600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:12758000-12770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:12758200-12758800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:12758200-12759400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:12758200-12759800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:12758200-12760000	Enhancers	HMEC	breast
35	chr7:12758200-12760000	Enhancers	NHEK	skin
36	chr7:12758200-12760200	Enhancers	NHDF-Ad	bronchial
37	chr7:12758200-12760200	Enhancers	Osteobl	bone
38	chr7:12758200-12760400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:12758400-12758800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:12758400-12759000	Enhancers	Colon Smooth Muscle	Colon
41	chr7:12758400-12759000	Enhancers	Psoas Muscle	Psoas
42	chr7:12758400-12759000	Enhancers	Rectal Smooth Muscle	rectum
43	chr7:12758400-12759000	Enhancers	Stomach Smooth Muscle	stomach
44	chr7:12758400-12759200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:12758400-12759200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:12758400-12759200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:12758400-12759200	Enhancers	NHLF	lung
48	chr7:12758400-12759400	Flanking Active TSS	A549	lung
49	chr7:12758400-12759600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:12758400-12759600	Enhancers	Fetal Lung	lung

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