Variant report

Variant	rs7758459
Chromosome Location	chr6:166746764-166746765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:166746252-166749844	GM12891	blood:	n/a	n/a
2	POLR2A	chr6:166746332-166746980	GM12891	blood:	n/a	n/a
3	POLR2A	chr6:166746318-166748671	HL-60	blood:	n/a	n/a
4	POLR2A	chr6:166746571-166749863	GM12892	blood:	n/a	n/a
5	STAT5A	chr6:166746423-166747957	GM12878	blood:	n/a	chr6:166746641-166746652 chr6:166747288-166747300
6	POLR2A	chr6:166742700-166754624	K562	blood:	n/a	n/a
7	POLR2A	chr6:166746147-166749873	GM12891	blood:	n/a	n/a
8	POLR2A	chr6:166746601-166747875	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:166746328-166747515	K562	blood:	n/a	n/a
10	POLR2A	chr6:166746274-166749904	GM12891	blood:	n/a	n/a
11	POLR2A	chr6:166746755-166746981	ProgFib	skin:	n/a	n/a
12	POLR2A	chr6:166746606-166748421	GM19193	blood:	n/a	n/a
13	POLR2A	chr6:166746206-166754614	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:166745653-166751514	GM12892	blood:	n/a	n/a
15	NFATC1	chr6:166746279-166748938	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:166746560-166746803	K562	blood:	n/a	n/a
17	POLR2A	chr6:166745484-166754512	GM12892	blood:	n/a	n/a
18	NFATC1	chr6:166746256-166747866	GM12878	blood:	n/a	n/a
19	WRNIP1	chr6:166745983-166747626	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:166745570-166751783	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:166746608-166747921	HL-60	blood:	n/a	n/a
22	ZMIZ1	chr6:166746741-166746826	K562	blood:	n/a	n/a
23	POLR2A	chr6:166746365-166757465	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:166745466-166757224	GM12878	blood:	n/a	n/a
25	TCF3	chr6:166746630-166746925	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:166745668-166754554	GM12878	blood:	n/a	n/a
27	POU2F2	chr6:166746750-166747617	GM12891	blood:	n/a	n/a
28	POLR2A	chr6:166746200-166747640	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:166746557-166746934	K562	blood:	n/a	n/a
30	PML	chr6:166746746-166748099	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:166745300-166754633	GM12891	blood:	n/a	n/a
32	RELA	chr6:166746497-166747687	GM12891	blood:	n/a	n/a
33	MTA3	chr6:166746591-166750124	GM12878	blood:	n/a	n/a
34	ELF1	chr6:166746674-166747303	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:166746306-166747194	MCF10A-Er-Src	breast:	n/a	n/a
36	RUNX3	chr6:166746561-166747676	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:166746691-166746882	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr6:166746621-166747552	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:166746293..166747904-chr6:166796894..166799021,2	K562	blood:
2	chr6:166743072..166748840-chr6:166793771..166798653,8	K562	blood:
3	chr6:166745230..166747762-chr6:166754729..166756977,2	MCF-7	breast:

No data

Variant related genes	Relation type
HNRNPA1P49	TF binding region
SFT2D1	TF binding region
ENSG00000060762	Chromatin interaction
ENSG00000261420	Chromatin interaction
ENSG00000198818	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6928141	1.00[AFR][1000 genomes]
rs73028638	1.00[AFR][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	nsv886934	chr6:166642850-166747572	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166732400-166751600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:166733200-166753600	Weak transcription	Fetal Heart	heart
3	chr6:166733800-166749600	Weak transcription	Psoas Muscle	Psoas
4	chr6:166733800-166753800	Weak transcription	Hela-S3	cervix
5	chr6:166734600-166754800	Weak transcription	HUVEC	blood vessel
6	chr6:166738200-166754200	Weak transcription	NH-A	brain
7	chr6:166739400-166746800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:166739400-166748000	Weak transcription	Gastric	stomach
9	chr6:166739400-166755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:166740000-166750800	Weak transcription	HSMMtube	muscle
11	chr6:166740400-166748600	Weak transcription	Brain Germinal Matrix	brain
12	chr6:166741400-166750000	Weak transcription	HMEC	breast
13	chr6:166741400-166752400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:166742200-166751200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:166742400-166748200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:166742600-166754000	Weak transcription	Fetal Kidney	kidney
17	chr6:166742800-166746800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:166742800-166747000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:166742800-166748400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:166742800-166749200	Weak transcription	NHEK	skin
21	chr6:166742800-166750000	Weak transcription	Colonic Mucosa	Colon
22	chr6:166742800-166751000	Weak transcription	HSMM	muscle
23	chr6:166743000-166746800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:166743000-166746800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:166743000-166748000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:166743000-166749200	Weak transcription	Fetal Lung	lung
27	chr6:166743000-166749600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:166743400-166747200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:166743400-166748200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:166743400-166749600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:166743600-166747000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr6:166743800-166747200	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:166743800-166747600	Enhancers	Brain Substantia Nigra	brain
34	chr6:166744000-166747200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:166744000-166747400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
36	chr6:166744000-166747400	Enhancers	K562	blood
37	chr6:166744200-166747200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr6:166744200-166747400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:166744200-166747600	Enhancers	Brain Hippocampus Middle	brain
40	chr6:166744400-166746800	Weak transcription	Esophagus	oesophagus
41	chr6:166744400-166746800	Enhancers	Dnd41	blood
42	chr6:166744400-166747000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:166744400-166747400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:166744400-166747800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:166744400-166750600	Weak transcription	NHLF	lung
46	chr6:166744400-166752000	Weak transcription	Right Atrium	heart
47	chr6:166744400-166754800	Weak transcription	NHDF-Ad	bronchial
48	chr6:166744600-166746800	Weak transcription	Pancreas	Pancrea
49	chr6:166744600-166746800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr6:166744600-166747000	Weak transcription	Right Ventricle	heart

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