Variant report

Variant	rs45618440
Chromosome Location	chr6:114178320-114178321
allele	C/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	SIN3AK20	chr6:114178276-114178729	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr6:114177893-114180733	GM12891	blood:	n/a	n/a
3	POLR2A	chr6:114177895-114178961	U87	brain:	n/a	n/a
4	RELA	chr6:114177662-114180432	GM12878	blood:	n/a	n/a
5	BCLAF1	chr6:114177930-114178743	GM12878	blood:	n/a	n/a
6	CEBPD	chr6:114178265-114178578	HepG2	liver:	n/a	n/a
7	CREB1	chr6:114177813-114178757	GM12878	blood:	n/a	n/a
8	CHD2	chr6:114178005-114178691	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr6:114178271-114178642	GM12892	blood:	n/a	n/a
10	SIN3A	chr6:114178002-114178675	GM12878	blood:	n/a	chr6:114178498-114178507
11	MAX	chr6:114177860-114178608	A549	lung:	n/a	n/a
12	TAF1	chr6:114178078-114178765	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr6:114177981-114180744	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr6:114177102-114178714	SK-N-SH	brain:	n/a	chr6:114177265-114177274
15	POLR2A	chr6:114178293-114178843	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr6:114177906-114180494	HUVEC	blood vessel:	n/a	n/a
17	RFX5	chr6:114178308-114178633	GM12878	blood:	n/a	n/a
18	FOXM1	chr6:114177722-114178682	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:114175846-114180712	HUVEC	blood vessel:	n/a	n/a
20	SIN3AK20	chr6:114177744-114178751	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr6:114177142-114180867	HepG2	liver:	n/a	n/a
22	YY1	chr6:114178039-114178757	GM12878	blood:	n/a	chr6:114178147-114178158 chr6:114178440-114178449
23	SMC3	chr6:114177815-114178742	GM12878	blood:	n/a	chr6:114178442-114178452
24	RAD21	chr6:114177919-114180705	SK-N-SH_RA	brain:	n/a	chr6:114180281-114180291 chr6:114179232-114179244 chr6:114180277-114180296 chr6:114180279-114180291 chr6:114179321-114179331 chr6:114178442-114178452 chr6:114180337-114180351
25	SP1	chr6:114177978-114178776	H1-hESC	embryonic stem cell:	n/a	chr6:114178438-114178450 chr6:114178143-114178157 chr6:114178440-114178449 chr6:114178439-114178449 chr6:114178439-114178448 chr6:114178440-114178453 chr6:114178439-114178448 chr6:114178438-114178450 chr6:114178439-114178453 chr6:114178147-114178156 chr6:114178439-114178449
26	TAF1	chr6:114175744-114178762	H1-neurons	neurons:	n/a	n/a
27	TCF7L2	chr6:114177991-114178751	PANC-1	pancreas:	n/a	chr6:114178705-114178719
28	TAF7	chr6:114178310-114178769	H1-hESC	embryonic stem cell:	n/a	n/a
29	PAX5	chr6:114178179-114178594	GM12892	blood:	n/a	n/a
30	YY1	chr6:114177859-114178744	SK-N-SH_RA	brain:	n/a	chr6:114178147-114178158 chr6:114178440-114178449
31	POLR2A	chr6:114176406-114181921	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:114177890-114178741	GM12892	blood:	n/a	n/a
33	POLR2A	chr6:114177895-114181869	GM19193	blood:	n/a	n/a
34	POLR2A	chr6:114175646-114180580	H1-neurons	neurons:	n/a	n/a
35	GATA2	chr6:114177200-114178608	SH-SY5Y	brain:	n/a	n/a
36	YY1	chr6:114177999-114178704	GM12891	blood:	n/a	chr6:114178147-114178158 chr6:114178440-114178449
37	POLR2A	chr6:114177986-114178749	U87	brain:	n/a	n/a
38	SP1	chr6:114177863-114178651	A549	lung:	n/a	chr6:114178438-114178450 chr6:114178143-114178157 chr6:114178440-114178449 chr6:114178439-114178449 chr6:114178439-114178448 chr6:114178440-114178453 chr6:114178439-114178448 chr6:114178438-114178450 chr6:114178439-114178453 chr6:114178147-114178156 chr6:114178439-114178449
39	PAX5	chr6:114177956-114178721	GM12878	blood:	n/a	n/a
40	RELA	chr6:114176836-114180588	GM18505	blood:	n/a	n/a
41	TAF1	chr6:114177942-114180564	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr6:114177988-114181752	GM15510	blood:	n/a	n/a
43	BCL3	chr6:114177908-114178521	A549	lung:	n/a	n/a
44	USF2	chr6:114177779-114178417	GM12878	blood:	n/a	n/a
45	REST	chr6:114178183-114178727	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr6:114178297-114178624	GM12878	blood:	n/a	n/a
47	BACH1	chr6:114177985-114178586	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr6:114176891-114180759	GM12878	blood:	n/a	chr6:114176896-114176905 chr6:114177265-114177274 chr6:114178787-114178797 chr6:114179441-114179451 chr6:114179438-114179448
49	PAX5	chr6:114178069-114178322	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:114178007-114178758	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:113962572..113972353-chr6:114176344..114182135,15	MCF-7	breast:
2	chr6:113951154..113956306-chr6:114178159..114180970,5	MCF-7	breast:
3	chr17:59488001..59490048-chr6:114178247..114180860,2	MCF-7	breast:
4	chr6:113951972..113954125-chr6:114177118..114180293,3	MCF-7	breast:
5	chr6:114178176..114180807-chr6:114192347..114194542,2	MCF-7	breast:
6	chr6:113753712..113755714-chr6:114178275..114180113,2	MCF-7	breast:
7	chr6:113970166..113973032-chr6:114177740..114182018,4	MCF-7	breast:
8	chr17:63555316..63557458-chr6:114177797..114179587,2	MCF-7	breast:
9	chr6:114177680..114181410-chr6:114290377..114292499,3	MCF-7	breast:

Variant related genes	Relation type
MARCKS	TF binding region
ENSG00000267280	Chromatin interaction
ENSG00000196591	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000232316	Chromatin interaction
ENSG00000227502	Chromatin interaction
ENSG00000230943	Chromatin interaction
ENSG00000228624	Chromatin interaction
ENSG00000168646	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10085305	1.00[AMR][1000 genomes]
rs3862823	1.00[AMR][1000 genomes]
rs45564039	1.00[AMR][1000 genomes]
rs58004831	1.00[AMR][1000 genomes]
rs59623484	1.00[AMR][1000 genomes]
rs6931913	1.00[AMR][1000 genomes]
rs73545787	1.00[AMR][1000 genomes]
rs73545797	1.00[AMR][1000 genomes]
rs7744200	1.00[AMR][1000 genomes]
rs7760127	1.00[AMR][1000 genomes]
rs7760474	1.00[AMR][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	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
4	esv3444623	chr6:114177809-114182607	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114175400-114180400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:114175400-114182200	Active TSS	A549	lung
3	chr6:114175600-114178800	Active TSS	Brain Germinal Matrix	brain
4	chr6:114175600-114179000	Active TSS	Fetal Brain Female	brain
5	chr6:114175600-114181400	Active TSS	NHLF	lung
6	chr6:114175600-114181800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr6:114175600-114181800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:114175600-114181800	Active TSS	Fetal Lung	lung
9	chr6:114175600-114181800	Active TSS	NHDF-Ad	bronchial
10	chr6:114175600-114182000	Active TSS	Brain Anterior Caudate	brain
11	chr6:114175600-114182000	Active TSS	Brain Hippocampus Middle	brain
12	chr6:114175600-114182200	Active TSS	Brain Substantia Nigra	brain
13	chr6:114175600-114183000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr6:114175600-114183600	Active TSS	Right Atrium	heart
15	chr6:114175600-114184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr6:114175800-114179600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:114175800-114180400	Active TSS	Colonic Mucosa	Colon
18	chr6:114175800-114180400	Active TSS	Right Ventricle	heart
19	chr6:114175800-114180400	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:114175800-114180600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:114175800-114180800	Active TSS	Fetal Kidney	kidney
22	chr6:114175800-114181800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:114175800-114181800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:114175800-114181800	Active TSS	Brain Angular Gyrus	brain
25	chr6:114175800-114181800	Active TSS	Esophagus	oesophagus
26	chr6:114175800-114181800	Active TSS	Gastric	stomach
27	chr6:114175800-114181800	Active TSS	Pancreas	Pancrea
28	chr6:114175800-114181800	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr6:114175800-114182000	Active TSS	Aorta	Aorta
30	chr6:114175800-114182000	Active TSS	Fetal Intestine Small	intestine
31	chr6:114175800-114182200	Active TSS	Brain Cingulate Gyrus	brain
32	chr6:114175800-114182200	Active TSS	Ovary	ovary
33	chr6:114175800-114182600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:114175800-114182800	Active TSS	Psoas Muscle	Psoas
35	chr6:114176000-114179000	Active TSS	Rectal Smooth Muscle	rectum
36	chr6:114176000-114180400	Active TSS	Left Ventricle	heart
37	chr6:114176000-114181000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:114176000-114182400	Active TSS	Fetal Intestine Large	intestine
39	chr6:114176000-114183200	Active TSS	Colon Smooth Muscle	Colon
40	chr6:114176200-114179800	Active TSS	Stomach Smooth Muscle	stomach
41	chr6:114176200-114180600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:114176200-114181800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:114176200-114182200	Active TSS	Fetal Muscle Trunk	muscle
44	chr6:114176400-114180000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr6:114176400-114180200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:114176600-114178400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr6:114176600-114178400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr6:114176600-114178400	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr6:114176600-114178400	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr6:114176600-114178400	Flanking Active TSS	Adipose Nuclei	Adipose

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