Variant report

Variant	rs73768567
Chromosome Location	chr6:114176771-114176772
allele	A/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	RAD21	chr6:114175787-114176841	H1-hESC	embryonic stem cell:	n/a	chr6:114176321-114176333
2	E2F6	chr6:114176321-114176908	H1-hESC	embryonic stem cell:	n/a	n/a
3	RELA	chr6:114176416-114177571	GM18951	blood:	n/a	n/a
4	POLR2A	chr6:114175846-114180712	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr6:114176744-114177116	GM12891	blood:	n/a	n/a
6	TAF1	chr6:114175744-114178762	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr6:114176406-114181921	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:114175646-114180580	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr6:114176415-114177670	GM12892	blood:	n/a	n/a
10	TAF1	chr6:114175915-114177062	SK-N-SH	brain:	n/a	n/a
11	YY1	chr6:114176393-114176942	SK-N-SH_RA	brain:	n/a	chr6:114176795-114176815 chr6:114176810-114176821
12	TBL1XR1	chr6:114175956-114177709	GM12878	blood:	n/a	n/a
13	E2F6	chr6:114176722-114178723	A549	lung:	n/a	chr6:114178440-114178449
14	TAF1	chr6:114176382-114176811	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr6:114176432-114178763	A549	lung:	n/a	n/a
16	NRF1	chr6:114175646-114177304	SK-N-SH	brain:	n/a	chr6:114176112-114176123
17	POLR2A	chr6:114176409-114177640	GM12891	blood:	n/a	n/a
18	POLR2A	chr6:114175666-114182237	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:114175955-114177016	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr6:114176305-114176931	U87	brain:	n/a	n/a
21	STAT1	chr6:114176651-114176980	GM12878	blood:	n/a	n/a
22	RUNX3	chr6:114176326-114176951	GM12878	blood:	n/a	n/a
23	MAX	chr6:114176522-114177745	A549	lung:	n/a	chr6:114176896-114176905 chr6:114177265-114177274
24	MAZ	chr6:114175600-114179162	IMR90	lung:	n/a	chr6:114176896-114176905 chr6:114177265-114177274 chr6:114178787-114178797
25	MAX	chr6:114175864-114176970	H1-hESC	embryonic stem cell:	n/a	chr6:114176896-114176905
26	POLR2A	chr6:114175811-114182488	GM18505	blood:	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	MXI1	chr6:114175563-114177601	GM12878	blood:	n/a	chr6:114176472-114176487 chr6:114176474-114176489
30	POLR2A	chr6:114176294-114180775	HUVEC	blood vessel:	n/a	n/a
31	REST	chr6:114175598-114180889	H1-neurons	neurons:	n/a	chr6:114178774-114178787 chr6:114180711-114180724 chr6:114180209-114180222 chr6:114180178-114180191
32	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
33	CHD1	chr6:114176489-114180677	GM12878	blood:	n/a	chr6:114179443-114179453
34	POLR2A	chr6:114176708-114177691	GM12892	blood:	n/a	n/a
35	TBP	chr6:114176114-114177723	GM12878	blood:	n/a	n/a
36	WRNIP1	chr6:114176475-114180725	GM12878	blood:	n/a	n/a
37	MAZ	chr6:114175784-114176886	K562	blood:	n/a	n/a
38	SIN3AK20	chr6:114176627-114177036	SK-N-SH	brain:	n/a	n/a
39	TCF12	chr6:114175648-114181008	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr6:114175875-114182132	GM12892	blood:	n/a	n/a
41	KAP1	chr6:114176678-114178449	HEK293	kidney:	n/a	n/a
42	EP300	chr6:114176387-114178739	GM12878	blood:	n/a	chr6:114178619-114178633 chr6:114178485-114178494 chr6:114177862-114177875
43	MAX	chr6:114176485-114178790	A549	lung:	n/a	chr6:114176896-114176905 chr6:114177265-114177274
44	TAF1	chr6:114175849-114178783	H1-neurons	neurons:	n/a	n/a
45	GATA2	chr6:114175825-114176906	SH-SY5Y	brain:	n/a	n/a
46	NFIC	chr6:114176236-114180394	GM12878	blood:	n/a	n/a
47	MAX	chr6:114175510-114176800	HepG2	liver:	n/a	n/a
48	MAZ	chr6:114175943-114176945	HepG2	liver:	n/a	chr6:114176896-114176905
49	BCLAF1	chr6:114176339-114180683	GM12878	blood:	n/a	chr6:114179318-114179327 chr6:114179523-114179532 chr6:114180078-114180087 chr6:114180279-114180292 chr6:114180278-114180286
50	RUNX3	chr6:114176385-114177466	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:113962572..113972353-chr6:114176344..114182135,15	MCF-7	breast:
2	chr6:114134634..114136200-chr6:114175448..114177734,2	MCF-7	breast:
3	chr6:112667268..112670155-chr6:114175436..114177646,2	K562	blood:

Variant related genes	Relation type
MARCKS	TF binding region
ENSG00000230943	Chromatin interaction
ENSG00000251258	Chromatin interaction

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

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

rs_ID	r²[population]
rs73768560	1.00[EUR][1000 genomes]
rs751923	0.90[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	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

No data

Chromatin state (count:125 , 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	chr6:114175400-114176800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:114175400-114176800	Active TSS	NH-A	brain
4	chr6:114175400-114177000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:114175400-114177000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:114175400-114177000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr6:114175400-114180400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:114175400-114182200	Active TSS	A549	lung
9	chr6:114175600-114176800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:114175600-114176800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:114175600-114176800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:114175600-114176800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:114175600-114176800	Active TSS	Fetal Stomach	stomach
14	chr6:114175600-114176800	Active TSS	Placenta Amnion	Placenta Amnion
15	chr6:114175600-114176800	Active TSS	Stomach Mucosa	stomach
16	chr6:114175600-114177000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr6:114175600-114177000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:114175600-114177200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr6:114175600-114177200	Active TSS	Fetal Brain Male	brain
20	chr6:114175600-114178000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:114175600-114178800	Active TSS	Brain Germinal Matrix	brain
22	chr6:114175600-114179000	Active TSS	Fetal Brain Female	brain
23	chr6:114175600-114181400	Active TSS	NHLF	lung
24	chr6:114175600-114181800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:114175600-114181800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:114175600-114181800	Active TSS	Fetal Lung	lung
27	chr6:114175600-114181800	Active TSS	NHDF-Ad	bronchial
28	chr6:114175600-114182000	Active TSS	Brain Anterior Caudate	brain
29	chr6:114175600-114182000	Active TSS	Brain Hippocampus Middle	brain
30	chr6:114175600-114182200	Active TSS	Brain Substantia Nigra	brain
31	chr6:114175600-114183000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr6:114175600-114183600	Active TSS	Right Atrium	heart
33	chr6:114175600-114184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:114175800-114176800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:114175800-114176800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr6:114175800-114176800	Active TSS	Liver	Liver
37	chr6:114175800-114176800	Active TSS	HSMM	muscle
38	chr6:114175800-114177000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr6:114175800-114177000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:114175800-114177000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr6:114175800-114177400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr6:114175800-114177800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:114175800-114178000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
44	chr6:114175800-114179600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:114175800-114180400	Active TSS	Colonic Mucosa	Colon
46	chr6:114175800-114180400	Active TSS	Right Ventricle	heart
47	chr6:114175800-114180400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr6:114175800-114180600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:114175800-114180800	Active TSS	Fetal Kidney	kidney
50	chr6:114175800-114181800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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