Variant report

Variant	rs6916302
Chromosome Location	chr6:13411320-13411321
allele	G/T
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	CTCF	chr6:13411161-13411359	HepG2	liver:	n/a	n/a
2	SMC3	chr6:13411188-13411378	HepG2	liver:	n/a	chr6:13411252-13411260
3	RAD21	chr6:13411059-13411419	HepG2	liver:	n/a	n/a
4	MAFF	chr6:13411192-13411428	HepG2	liver:	n/a	n/a
5	REST	chr6:13411023-13411530	H1-neurons	neurons:	n/a	chr6:13411465-13411478
6	CTCF	chr6:13411211-13411419	K562	blood:	n/a	n/a
7	MAFK	chr6:13411240-13411399	HepG2	liver:	n/a	n/a
8	RAD21	chr6:13411079-13411419	HepG2	liver:	n/a	n/a
9	MAFK	chr6:13411210-13411391	HepG2	liver:	n/a	n/a
10	RAD21	chr6:13411063-13411457	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:13410942-13411531	H1-neurons	neurons:	n/a	n/a
12	CTCF	chr6:13411197-13411397	GM12878	blood:	n/a	n/a
13	EP300	chr6:13411287-13411333	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:13411007-13411504	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
GFOD1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6904847	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6919467	0.91[AFR][1000 genomes]
rs6934350	0.91[AFR][1000 genomes]
rs7739234	0.91[AFR][1000 genomes]
rs7752876	0.91[AFR][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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13401800-13419000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:13404400-13411400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:13405000-13418400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:13405000-13421800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:13408600-13411400	Weak transcription	Pancreas	Pancrea
6	chr6:13408600-13411800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:13408600-13412200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:13408600-13412400	Weak transcription	Fetal Lung	lung
9	chr6:13408600-13412400	Weak transcription	Spleen	Spleen
10	chr6:13408600-13412600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:13408600-13412800	Weak transcription	Gastric	stomach
12	chr6:13408600-13413000	Weak transcription	NHLF	lung
13	chr6:13408600-13413200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:13408600-13413200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:13408600-13413200	Weak transcription	Fetal Stomach	stomach
16	chr6:13408600-13413400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:13408600-13413400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr6:13408600-13413400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:13408600-13413400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:13408600-13413600	Weak transcription	Placenta	Placenta
21	chr6:13408600-13413600	Weak transcription	Osteobl	bone
22	chr6:13408600-13414200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:13408600-13414600	Weak transcription	NHEK	skin
24	chr6:13408600-13415800	Enhancers	Liver	Liver
25	chr6:13408600-13422600	Weak transcription	HSMM	muscle
26	chr6:13408800-13411400	Weak transcription	Lung	lung
27	chr6:13408800-13412400	Weak transcription	Stomach Mucosa	stomach
28	chr6:13408800-13412800	Enhancers	HepG2	liver
29	chr6:13408800-13413200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:13408800-13413200	Weak transcription	Brain Anterior Caudate	brain
31	chr6:13408800-13413400	Weak transcription	NH-A	brain
32	chr6:13408800-13413600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:13408800-13413600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:13408800-13414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:13408800-13415200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:13408800-13419400	Weak transcription	Primary B cells from cord blood	blood
37	chr6:13408800-13420200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:13408800-13423000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:13409000-13412800	Weak transcription	Esophagus	oesophagus
40	chr6:13409000-13413200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:13409000-13413400	Weak transcription	HMEC	breast
42	chr6:13409200-13414600	Weak transcription	Hela-S3	cervix
43	chr6:13409400-13411800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr6:13409600-13415400	Enhancers	Brain Angular Gyrus	brain
45	chr6:13409800-13411400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:13410000-13415000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:13410200-13412000	Enhancers	Stomach Smooth Muscle	stomach
48	chr6:13410200-13415400	Enhancers	Brain Hippocampus Middle	brain
49	chr6:13410200-13415800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:13410400-13411400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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