Variant report

Variant	rs7747961
Chromosome Location	chr6:114176336-114176337
allele	C/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	RAD21	chr6:114175787-114176841	H1-hESC	embryonic stem cell:	n/a	chr6:114176321-114176333
2	EP300	chr6:114175925-114176661	SK-N-SH_RA	brain:	n/a	chr6:114176026-114176042 chr6:114176035-114176051 chr6:114176200-114176214 chr6:114176201-114176215 chr6:114176193-114176207 chr6:114176199-114176213 chr6:114176035-114176044 chr6:114176033-114176049
3	E2F6	chr6:114176321-114176908	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:114175846-114180712	HUVEC	blood vessel:	n/a	n/a
5	TAF1	chr6:114175744-114178762	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr6:114175646-114180580	H1-neurons	neurons:	n/a	n/a
7	TAF1	chr6:114175915-114177062	SK-N-SH	brain:	n/a	n/a
8	YY1	chr6:114176189-114176538	GM12892	blood:	n/a	chr6:114176323-114176331 chr6:114176320-114176339
9	MAX	chr6:114175571-114176446	HCT-116	colon:	n/a	n/a
10	TBL1XR1	chr6:114175956-114177709	GM12878	blood:	n/a	n/a
11	NFYB	chr6:114176013-114176367	K562	blood:	n/a	n/a
12	BHLHE40	chr6:114175980-114176589	GM12878	blood:	n/a	chr6:114176036-114176052 chr6:114176035-114176051
13	NRF1	chr6:114175646-114177304	SK-N-SH	brain:	n/a	chr6:114176112-114176123
14	POLR2A	chr6:114176275-114176641	GM12878	blood:	n/a	n/a
15	MAX	chr6:114175565-114176420	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr6:114175666-114182237	GM12878	blood:	n/a	n/a
17	SP1	chr6:114175915-114176689	A549	lung:	n/a	chr6:114176023-114176037
18	POLR2A	chr6:114175955-114177016	HUVEC	blood vessel:	n/a	n/a
19	EP300	chr6:114175941-114176571	SK-N-SH_RA	brain:	n/a	chr6:114176026-114176042 chr6:114176035-114176051 chr6:114176200-114176214 chr6:114176201-114176215 chr6:114176193-114176207 chr6:114176199-114176213 chr6:114176035-114176044 chr6:114176033-114176049
20	POLR2A	chr6:114176305-114176931	U87	brain:	n/a	n/a
21	EGR1	chr6:114176233-114176417	GM12878	blood:	n/a	chr6:114176306-114176320
22	RUNX3	chr6:114176326-114176951	GM12878	blood:	n/a	n/a
23	MAZ	chr6:114175600-114179162	IMR90	lung:	n/a	chr6:114176896-114176905 chr6:114177265-114177274 chr6:114178787-114178797
24	MAX	chr6:114175864-114176970	H1-hESC	embryonic stem cell:	n/a	chr6:114176896-114176905
25	POLR2A	chr6:114175811-114182488	GM18505	blood:	n/a	n/a
26	ZBTB7A	chr6:114176131-114176529	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:114176306-114180949	PFSK-1	brain:	n/a	n/a
28	MXI1	chr6:114174689-114182165	SK-N-SH	brain:	n/a	chr6:114176472-114176487 chr6:114176474-114176489
29	ZNF143	chr6:114175894-114176573	GM12878	blood:	n/a	chr6:114175937-114175947 chr6:114176045-114176055
30	POLR2A	chr6:114176275-114176485	GM12878	blood:	n/a	n/a
31	MXI1	chr6:114175794-114176691	HepG2	liver:	n/a	chr6:114176472-114176487 chr6:114176474-114176489
32	ZNF143	chr6:114175777-114176665	H1-hESC	embryonic stem cell:	n/a	chr6:114175937-114175947 chr6:114176045-114176055
33	MXI1	chr6:114175563-114177601	GM12878	blood:	n/a	chr6:114176472-114176487 chr6:114176474-114176489
34	POLR2A	chr6:114176294-114180775	HUVEC	blood vessel:	n/a	n/a
35	REST	chr6:114175598-114180889	H1-neurons	neurons:	n/a	chr6:114178774-114178787 chr6:114180711-114180724 chr6:114180209-114180222 chr6:114180178-114180191
36	RAD21	chr6:114175172-114181070	SK-N-SH	brain:	n/a	chr6:114180281-114180291 chr6:114179232-114179244 chr6:114180277-114180296 chr6:114180279-114180291 chr6:114176321-114176333 chr6:114179321-114179331 chr6:114178442-114178452 chr6:114180337-114180351 chr6:114180794-114180804
37	EP300	chr6:114175729-114176738	SK-N-SH	brain:	n/a	chr6:114176026-114176042 chr6:114176035-114176051 chr6:114176200-114176214 chr6:114176201-114176215 chr6:114176193-114176207 chr6:114176199-114176213 chr6:114176035-114176044 chr6:114176033-114176049
38	EP300	chr6:114176076-114176606	GM12878	blood:	n/a	chr6:114176200-114176214 chr6:114176201-114176215 chr6:114176193-114176207 chr6:114176199-114176213
39	MAX	chr6:114175576-114176664	SK-N-SH	brain:	n/a	n/a
40	SIN3AK20	chr6:114175702-114176396	SK-N-SH	brain:	n/a	n/a
41	FOXA2	chr6:114175881-114176519	A549	lung:	n/a	n/a
42	TBP	chr6:114176114-114177723	GM12878	blood:	n/a	n/a
43	MAZ	chr6:114175784-114176886	K562	blood:	n/a	n/a
44	ZNF384	chr6:114175753-114176652	GM12878	blood:	n/a	n/a
45	TCF12	chr6:114175648-114181008	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr6:114175875-114182132	GM12892	blood:	n/a	n/a
47	POLR2A	chr6:114176304-114176378	A549	lung:	n/a	n/a
48	FOXP2	chr6:114175920-114176384	PFSK-1	brain:	n/a	n/a
49	YY1	chr6:114175879-114176568	HepG2	liver:	n/a	chr6:114176323-114176331 chr6:114176320-114176339
50	TAF1	chr6:114175849-114178783	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:114176300-114176350	NB4	blood:	n/a
2	chr6:114176300-114176350	Caco-2	colon:	n/a
3	chr6:114176300-114176350	GM12891	blood:	n/a
4	chr6:114176300-114176350	AG04450	lung:	fetal
5	chr6:114176300-114176350	NT2-D1	testis:	n/a
6	chr6:114176300-114176350	AG09309	skin:	n/a
7	chr6:114176300-114176350	SK-N-SH_RA	brain:	n/a
8	chr6:114176300-114176350	HCPEpiC	choroid plexus:	n/a
9	chr6:114176300-114176350	CMK	blood:	n/a
10	chr6:114176300-114176350	NHDF-neo	bronchial:	n/a
11	chr6:114176300-114176350	GM12878	blood:	n/a
12	chr6:114176300-114176350	MCF-7	breast:	n/a
13	chr6:114176300-114176350	Hela-S3	cervix:	n/a
14	chr6:114176300-114176350	HepG2	liver:	n/a
15	chr6:114176300-114176350	LNCaP	prostate:	n/a
16	chr6:114176300-114176350	HCM	heart:	n/a
17	chr6:114176300-114176350	RPTEC	kidney:	n/a
18	chr6:114176300-114176350	GM06990	blood:	n/a
19	chr6:114176300-114176350	NHBE	bronchial:	n/a
20	chr6:114176300-114176350	AG09319	gingival:	n/a
21	chr6:114176300-114176350	U87	brain:	n/a
22	chr6:114176300-114176350	SAEC	small airway:	n/a
23	chr6:114176300-114176350	A549	lung:	n/a
24	chr6:114176300-114176350	MCF10A-Er-Src	breast:	n/a
25	chr6:114176300-114176350	Jurkat	blood:	n/a
26	chr6:114176300-114176350	IMR90	lung:	fetal
27	chr6:114176300-114176350	AoSMC	blood vessel:	n/a
28	chr6:114176300-114176350	HRCEpiC	kidney:	n/a
29	chr6:114176300-114176350	HEK293	kidney:	embryo
30	chr6:114176300-114176350	HPAEpiC	pulmonary alveolar:	n/a
31	chr6:114176300-114176350	ovcar-3	ovarian:	n/a
32	chr6:114176300-114176350	HCT-116	colon:	n/a
33	chr6:114176300-114176350	H1-hESC	embryonic stem cell:	embryo
34	chr6:114176300-114176350	PFSK-1	brain:	n/a
35	chr6:114176300-114176350	ProgFib	skin:	n/a
36	chr6:114176300-114176350	BE2_C	brain:	n/a
37	chr6:114176300-114176350	BJ	skin:	n/a
38	chr6:114176300-114176350	T-47D	breast:	n/a
39	chr6:114176300-114176350	HUVEC	blood vessel:	n/a
40	chr6:114176300-114176350	NH-A	brain:	n/a
41	chr6:114176300-114176350	AG04449	skin:	fetal
42	chr6:114176300-114176350	SKMC	muscle:	n/a
43	chr6:114176300-114176350	HAEpiC	amniotic membrane:	n/a
44	chr6:114176300-114176350	HRE	kidney:	n/a
45	chr6:114176300-114176350	ECC-1	luminal epithelium:	n/a
46	chr6:114176300-114176350	SK-N-MC	brain:	n/a
47	chr6:114176300-114176350	HMEC	breast:	n/a
48	chr6:114176300-114176350	HEEpiC	esophagus:	n/a
49	chr6:114176300-114176350	HRPEpiC	eye:	n/a
50	chr6:114176300-114176350	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114134634..114136200-chr6:114175448..114177734,2	MCF-7	breast:
2	chr6:112667268..112670155-chr6:114175436..114177646,2	K562	blood:

Variant related genes	Relation type
MARCKS	TF binding region
MARCKS	CpG island
ENSG00000251258	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs352081	0.92[CHB][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap]
rs352082	0.92[CHB][hapmap]
rs693834	0.82[CHB][hapmap]

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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7747961	GPRC6A	cis	cerebellum	SCAN
rs7747961	MARCKS	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114175200-114176800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:114175400-114176600	Bivalent/Poised TSS	Thymus	Thymus
3	chr6:114175400-114176800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:114175400-114176800	Active TSS	NH-A	brain
5	chr6:114175400-114177000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:114175400-114177000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:114175400-114177000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr6:114175400-114180400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:114175400-114182200	Active TSS	A549	lung
10	chr6:114175600-114176600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:114175600-114176600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:114175600-114176600	Active TSS	Duodenum Mucosa	Duodenum
13	chr6:114175600-114176600	Active TSS	HMEC	breast
14	chr6:114175600-114176600	Active TSS	HSMMtube	muscle
15	chr6:114175600-114176600	Active TSS	K562	blood
16	chr6:114175600-114176600	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr6:114175600-114176800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr6:114175600-114176800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:114175600-114176800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:114175600-114176800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:114175600-114176800	Active TSS	Fetal Stomach	stomach
22	chr6:114175600-114176800	Active TSS	Placenta Amnion	Placenta Amnion
23	chr6:114175600-114176800	Active TSS	Stomach Mucosa	stomach
24	chr6:114175600-114177000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:114175600-114177000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:114175600-114177200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr6:114175600-114177200	Active TSS	Fetal Brain Male	brain
28	chr6:114175600-114178000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:114175600-114178800	Active TSS	Brain Germinal Matrix	brain
30	chr6:114175600-114179000	Active TSS	Fetal Brain Female	brain
31	chr6:114175600-114181400	Active TSS	NHLF	lung
32	chr6:114175600-114181800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr6:114175600-114181800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:114175600-114181800	Active TSS	Fetal Lung	lung
35	chr6:114175600-114181800	Active TSS	NHDF-Ad	bronchial
36	chr6:114175600-114182000	Active TSS	Brain Anterior Caudate	brain
37	chr6:114175600-114182000	Active TSS	Brain Hippocampus Middle	brain
38	chr6:114175600-114182200	Active TSS	Brain Substantia Nigra	brain
39	chr6:114175600-114183000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr6:114175600-114183600	Active TSS	Right Atrium	heart
41	chr6:114175600-114184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr6:114175800-114176400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr6:114175800-114176600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:114175800-114176600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:114175800-114176600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:114175800-114176800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:114175800-114176800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr6:114175800-114176800	Active TSS	Liver	Liver
49	chr6:114175800-114176800	Active TSS	HSMM	muscle
50	chr6:114175800-114177000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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