Variant report

Variant	rs6914864
Chromosome Location	chr6:27336489-27336490
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	chr6:27335641..27338190-chr6:27341764..27343410,2	MCF-7	breast:
2	chr6:27334491..27337310-chr6:27338396..27341247,3	K562	blood:

Variant related genes	Relation type
ENSG00000204789	Chromatin interaction
ENSG00000124613	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1011665	0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10946915	0.84[ASN][1000 genomes]
rs12529458	0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12663650	0.85[ASN][1000 genomes]
rs12664996	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs13220817	0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1883403	0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2064093	0.87[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs2235232	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2393926	0.85[ASN][1000 genomes]
rs2393962	0.87[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs2393964	0.87[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs4711152	0.81[ASN][1000 genomes]
rs6913166	0.85[ASN][1000 genomes]
rs6922815	0.82[ASN][1000 genomes]
rs71559025	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs764284	0.82[ASN][1000 genomes]
rs7761966	0.87[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap]
rs7772739	0.85[ASN][1000 genomes]
rs9357038	0.88[ASN][1000 genomes]
rs9379980	0.83[ASN][1000 genomes]
rs9393813	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6914864	ZNF391	cis	cerebellum	SCAN
rs6914864	BTN3A3	cis	cerebellum	SCAN
rs6914864	NKAPL	cis	parietal	SCAN
rs6914864	ZNF204P	cis	parietal	SCAN
rs6914864	PGBD1	cis	cerebellum	SCAN
rs6914864	ZKSCAN3	cis	cerebellum	SCAN
rs6914864	ZNF204P	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27326800-27342000	Weak transcription	Colonic Mucosa	Colon
2	chr6:27327000-27342000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:27327400-27336600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:27327400-27341800	Weak transcription	Fetal Brain Male	brain
5	chr6:27327400-27341800	Weak transcription	Fetal Kidney	kidney
6	chr6:27327600-27342200	Weak transcription	Brain Substantia Nigra	brain
7	chr6:27328000-27342400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:27328200-27341800	Weak transcription	Adipose Nuclei	Adipose
9	chr6:27328200-27341800	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:27328200-27341800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:27328200-27342200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:27328400-27341800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:27329400-27337000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:27329400-27341800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:27329800-27342000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:27330200-27341400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:27330600-27341800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:27330600-27341800	Weak transcription	Brain Anterior Caudate	brain
19	chr6:27331200-27341600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:27331200-27341800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:27331600-27342000	Weak transcription	Left Ventricle	heart
22	chr6:27333600-27336800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr6:27334000-27341400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:27334000-27342200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:27335200-27336800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:27335200-27337000	ZNF genes & repeats	Ovary	ovary
27	chr6:27335200-27337800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:27335400-27336600	Strong transcription	Pancreas	Pancrea
29	chr6:27335400-27336800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr6:27335400-27337200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:27335600-27336600	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr6:27335600-27336600	Strong transcription	Colon Smooth Muscle	Colon
33	chr6:27335600-27336800	ZNF genes & repeats	Lung	lung
34	chr6:27335600-27337000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr6:27335600-27337000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:27335600-27337000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:27335600-27337000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:27335600-27337000	ZNF genes & repeats	Aorta	Aorta
39	chr6:27335600-27337000	ZNF genes & repeats	Esophagus	oesophagus
40	chr6:27335600-27337000	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr6:27335600-27337000	Strong transcription	Fetal Lung	lung
42	chr6:27335600-27337000	ZNF genes & repeats	Fetal Stomach	stomach
43	chr6:27335600-27337000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:27335600-27337200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr6:27335600-27337800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr6:27335800-27336600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr6:27335800-27336800	Strong transcription	Brain Angular Gyrus	brain
48	chr6:27335800-27336800	ZNF genes & repeats	Fetal Intestine Large	intestine
49	chr6:27335800-27336800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
50	chr6:27335800-27336800	Strong transcription	Right Ventricle	heart

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