Variant report

Variant	rs9367406
Chromosome Location	chr6:13284155-13284156
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	POLR2A	chr6:13283435-13284285	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:13283510-13284194	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:13284121-13284447	K562	blood:	n/a	n/a
4	POLR2A	chr6:13277957-13284428	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:13283556-13284368	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:13283479-13284322	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13280798..13285135-chr6:13573249..13575552,3	K562	blood:
2	chr6:13283735..13285772-chr6:13319081..13321268,2	K562	blood:
3	chr6:13284063..13286332-chr6:13306674..13308343,2	K562	blood:

Variant related genes	Relation type
ENSG00000215022	TF binding region
ENSG00000124523	Chromatin interaction
ENSG00000145979	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs475776	0.91[ASN][1000 genomes]
rs530507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542618	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs578290	1.00[CEU][hapmap]
rs6458744	0.85[AMR][1000 genomes]
rs6924685	0.85[ASN][1000 genomes]
rs693758	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6942028	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7769621	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7770755	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9367413	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9395628	0.85[ASN][1000 genomes]
rs9395637	1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13249800-13287000	Weak transcription	Fetal Brain Male	brain
2	chr6:13269400-13284800	Weak transcription	Right Atrium	heart
3	chr6:13269600-13286600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:13269600-13286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:13270200-13291600	Weak transcription	HSMM	muscle
6	chr6:13270400-13285400	Weak transcription	Fetal Heart	heart
7	chr6:13271600-13287200	Weak transcription	Fetal Lung	lung
8	chr6:13273400-13286800	Weak transcription	Liver	Liver
9	chr6:13273800-13291400	Weak transcription	Psoas Muscle	Psoas
10	chr6:13274400-13286800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:13274400-13287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:13274400-13289200	Weak transcription	HSMMtube	muscle
13	chr6:13274600-13286200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:13274600-13286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
16	chr6:13274800-13286600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:13274800-13287000	Weak transcription	Thymus	Thymus
18	chr6:13274800-13292800	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:13275000-13285000	Weak transcription	Fetal Intestine Small	intestine
20	chr6:13275000-13286800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:13275000-13287000	Weak transcription	Gastric	stomach
22	chr6:13275200-13286400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:13275600-13286600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:13275600-13287000	Weak transcription	Adipose Nuclei	Adipose
25	chr6:13275600-13291600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:13276000-13287400	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr6:13277400-13286200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr6:13277400-13287000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:13277600-13284200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:13277800-13285000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:13279200-13285400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr6:13279200-13287000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:13279400-13286800	Weak transcription	Fetal Intestine Large	intestine
34	chr6:13279400-13287800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:13279600-13285400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr6:13280000-13285000	Weak transcription	Brain Angular Gyrus	brain
37	chr6:13280000-13288000	Strong transcription	Brain Anterior Caudate	brain
38	chr6:13280000-13289000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:13280000-13292600	Weak transcription	NHLF	lung
40	chr6:13280200-13285800	Strong transcription	Lung	lung
41	chr6:13280200-13292400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:13280800-13284600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr6:13280800-13287000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:13280800-13287600	Weak transcription	NHDF-Ad	bronchial
45	chr6:13281200-13287000	Weak transcription	Primary T cells from cord blood	blood
46	chr6:13281400-13284800	Strong transcription	Primary B cells from cord blood	blood
47	chr6:13281400-13285000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:13281400-13285600	Weak transcription	Fetal Thymus	thymus
49	chr6:13281400-13287000	Weak transcription	Placenta	Placenta
50	chr6:13281600-13284800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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