Variant report

Variant	rs73422050
Chromosome Location	chr6:30684932-30684933
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	POLR2A	chr6:30684117-30685689	GM18505	blood:	n/a	n/a
2	ZNF143	chr6:30684858-30685651	GM12878	blood:	n/a	chr6:30685196-30685215 chr6:30684984-30685002
3	HDAC2	chr6:30684675-30685564	K562	blood:	n/a	n/a
4	POLR2A	chr6:30684210-30685739	K562	blood:	n/a	n/a
5	REST	chr6:30684649-30685708	HL-60	blood:	n/a	n/a
6	TAF1	chr6:30684767-30685689	H1-neurons	neurons:	n/a	n/a
7	EP300	chr6:30684880-30685595	SK-N-SH_RA	brain:	n/a	chr6:30685569-30685583 chr6:30685391-30685398 chr6:30685573-30685582
8	POLR2A	chr6:30684125-30685728	GM12891	blood:	n/a	n/a
9	TBP	chr6:30684442-30685739	K562	blood:	n/a	n/a
10	MAFF	chr6:30684547-30685747	K562	blood:	n/a	n/a
11	MXI1	chr6:30684526-30685772	IMR90	lung:	n/a	n/a
12	SP2	chr6:30684729-30685743	H1-hESC	embryonic stem cell:	n/a	chr6:30685165-30685180 chr6:30685108-30685131
13	GABPA	chr6:30684716-30685638	K562	blood:	n/a	chr6:30685167-30685176 chr6:30685033-30685042 chr6:30685035-30685044
14	CEBPD	chr6:30684774-30685619	HepG2	liver:	n/a	n/a
15	TEAD4	chr6:30684167-30685849	K562	blood:	n/a	n/a
16	KAP1	chr6:30684463-30685704	U2OS	brain:	n/a	n/a
17	USF1	chr6:30684845-30685670	K562	blood:	n/a	n/a
18	REST	chr6:30684840-30685727	HepG2	liver:	n/a	n/a
19	TBL1XR1	chr6:30684280-30685723	K562	blood:	n/a	n/a
20	POLR2A	chr6:30684196-30685822	MCF-7	breast:	n/a	n/a
21	GATA3	chr6:30684926-30685779	A549	lung:	n/a	chr6:30685571-30685581
22	YY1	chr6:30684528-30685827	ECC-1	luminal epithelium:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
23	POLR2A	chr6:30684238-30685759	HUVEC	blood vessel:	n/a	n/a
24	E2F6	chr6:30684882-30685552	K562	blood:	n/a	chr6:30684955-30684967 chr6:30685322-30685333 chr6:30685167-30685176 chr6:30685323-30685335 chr6:30685428-30685435
25	YY1	chr6:30684404-30685861	HepG2	liver:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
26	BCLAF1	chr6:30684660-30685758	GM12878	blood:	n/a	chr6:30685569-30685578
27	STAT2	chr6:30684783-30685644	K562	blood:	n/a	chr6:30685473-30685484
28	NR2F2	chr6:30684655-30685693	MCF-7	breast:	n/a	n/a
29	REST	chr6:30684792-30685659	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr6:30684295-30685763	PBDE	blood:	n/a	n/a
31	FOXM1	chr6:30684616-30685762	MCF-7	breast:	n/a	n/a
32	EGR1	chr6:30684541-30685791	HCT-116	colon:	n/a	chr6:30685308-30685318 chr6:30685166-30685176 chr6:30685309-30685322
33	RXRA	chr6:30684873-30685583	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:30684646-30685786	IMR90	lung:	n/a	n/a
35	MTA3	chr6:30683646-30685838	GM12878	blood:	n/a	n/a
36	SP4	chr6:30684843-30685693	H1-hESC	embryonic stem cell:	n/a	chr6:30685163-30685179 chr6:30685165-30685181
37	E2F6	chr6:30684232-30685621	K562	blood:	n/a	chr6:30684955-30684967 chr6:30684874-30684884 chr6:30685322-30685333 chr6:30685167-30685176 chr6:30685323-30685335 chr6:30685428-30685435
38	POLR2A	chr6:30683610-30695318	SK-N-MC	brain:	n/a	n/a
39	YY1	chr6:30684611-30685776	H1-hESC	embryonic stem cell:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
40	POLR2A	chr6:30684020-30685741	GM12892	blood:	n/a	n/a
41	HEY1	chr6:30683642-30685800	K562	blood:	n/a	n/a
42	POLR2A	chr6:30684132-30685682	GM12878	blood:	n/a	n/a
43	TBP	chr6:30684709-30685681	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:30684723-30685676	HepG2	liver:	n/a	n/a
45	MYC	chr6:30684440-30685683	K562	blood:	n/a	chr6:30685463-30685472
46	SIN3AK20	chr6:30684815-30685751	SK-N-SH	brain:	n/a	n/a
47	SRF	chr6:30684843-30685839	MCF-7	breast:	n/a	chr6:30684998-30685008
48	ELK1	chr6:30684835-30685633	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:30684657-30685790	HepG2	liver:	n/a	n/a
50	EGR1	chr6:30684831-30685650	K562	blood:	n/a	chr6:30685308-30685318 chr6:30685166-30685176 chr6:30685309-30685322

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30684905-30684955	H1-hESC	embryonic stem cell:	embryo
2	chr6:30684905-30684955	ECC-1	luminal epithelium:	n/a
3	chr6:30684931-30684981	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:30684931-30684981	MCF10A-Er-Src	breast:	n/a
5	chr6:30684931-30684981	AG09319	gingival:	n/a
6	chr6:30684931-30684981	SK-N-MC	brain:	n/a
7	chr6:30684931-30684981	Jurkat	blood:	n/a
8	chr6:30684905-30684955	NB4	blood:	n/a
9	chr6:30684905-30684955	AG10803	skin:	n/a
10	chr6:30684931-30684981	HRE	kidney:	n/a
11	chr6:30684931-30684981	GM12891	blood:	n/a
12	chr6:30684905-30684955	HCPEpiC	choroid plexus:	n/a
13	chr6:30684931-30684981	AG10803	skin:	n/a
14	chr6:30684931-30684981	ProgFib	skin:	n/a
15	chr6:30684905-30684955	HPAEpiC	pulmonary alveolar:	n/a
16	chr6:30684931-30684981	SK-N-SH	brain:	n/a
17	chr6:30684931-30684981	HEEpiC	esophagus:	n/a
18	chr6:30684905-30684955	NHDF-neo	bronchial:	n/a
19	chr6:30684905-30684955	SK-N-MC	brain:	n/a
20	chr6:30684905-30684955	U87	brain:	n/a
21	chr6:30684905-30684955	HCT-116	colon:	n/a
22	chr6:30684905-30684955	HAEpiC	amniotic membrane:	n/a
23	chr6:30684905-30684955	NT2-D1	testis:	n/a
24	chr6:30684905-30684955	GM06990	blood:	n/a
25	chr6:30684905-30684955	LNCaP	prostate:	n/a
26	chr6:30684905-30684955	NHBE	bronchial:	n/a
27	chr6:30684905-30684955	GM19239	blood:	n/a
28	chr6:30684905-30684955	T-47D	breast:	n/a
29	chr6:30684931-30684981	PrEC	prostate:	n/a
30	chr6:30684931-30684981	MCF-7	breast:	n/a
31	chr6:30684931-30684981	HCM	heart:	n/a
32	chr6:30684905-30684955	HEEpiC	esophagus:	n/a
33	chr6:30684931-30684981	NT2-D1	testis:	n/a
34	chr6:30684931-30684981	H1-hESC	embryonic stem cell:	embryo
35	chr6:30684931-30684981	SAEC	small airway:	n/a
36	chr6:30684931-30684981	Hela-S3	cervix:	n/a
37	chr6:30684905-30684955	BJ	skin:	n/a
38	chr6:30684931-30684981	Caco-2	colon:	n/a
39	chr6:30684905-30684955	GM12892	blood:	n/a
40	chr6:30684905-30684955	Jurkat	blood:	n/a
41	chr6:30684905-30684955	MCF-7	breast:	n/a
42	chr6:30684905-30684955	HepG2	liver:	n/a
43	chr6:30684931-30684981	SKMC	muscle:	n/a
44	chr6:30684931-30684981	GM12878	blood:	n/a
45	chr6:30684905-30684955	GM12878	blood:	n/a
46	chr6:30684931-30684981	AG04450	lung:	fetal
47	chr6:30684931-30684981	GM06990	blood:	n/a
48	chr6:30684905-30684955	HUVEC	blood vessel:	n/a
49	chr6:30684931-30684981	A549	lung:	n/a
50	chr6:30684931-30684981	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30613134..30616889-chr6:30684889..30690956,7	MCF-7	breast:
2	chr6:30482934..30485578-chr6:30684677..30686611,2	K562	blood:
3	chr17:73775360..73776254-chr6:30684520..30685811,3	Hela-S3	cervix:
4	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
5	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
6	chr6:30608315..30616989-chr6:30683761..30694958,31	K562	blood:
7	chr6:30684320..30686534-chr6:30879167..30882068,2	MCF-7	breast:
8	chr6:30683909..30686000-chr6:31586796..31589035,2	MCF-7	breast:
9	chr6:30577862..30587208-chr6:30682997..30696247,43	MCF-7	breast:
10	chr6:30455852..30458015-chr6:30684660..30687891,3	K562	blood:
11	chr6:30683565..30685674-chr6:30879957..30882271,2	K562	blood:
12	chr6:30682386..30686066-chr6:30878897..30882722,4	K562	blood:
13	chr6:30538279..30540737-chr6:30682674..30685473,2	K562	blood:
14	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
15	chr6:30658243..30658855-chr6:30684681..30685476,2	NB4	blood:
16	chr6:30683784..30686577-chr6:30843156..30844763,2	K562	blood:
17	chr1:27226461..27227347-chr6:30684694..30685447,2	Hela-S3	cervix:
18	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:

Variant related genes	Relation type
MDC1	TF binding region
TUBB	TF binding region
MDC1	CpG island
TUBB	CpG island
ENSG00000204592	Chromatin interaction
ENSG00000230449	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000137404	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000198746	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000090273	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000235781	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17189357	1.00[ASN][1000 genomes]
rs28986467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57529939	1.00[ASN][1000 genomes]
rs61059475	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931296	1.00[ASN][1000 genomes]
rs73422011	0.85[AFR][1000 genomes]
rs73422013	0.85[AFR][1000 genomes]
rs73422044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433122	1.00[ASN][1000 genomes]
rs73433127	1.00[ASN][1000 genomes]
rs73433141	1.00[ASN][1000 genomes]
rs73433149	1.00[ASN][1000 genomes]
rs7747973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
6	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30683800-30686800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:30684000-30686200	Active TSS	K562	blood
3	chr6:30684200-30685000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr6:30684200-30685000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr6:30684200-30685000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr6:30684200-30685000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:30684200-30685000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr6:30684200-30685000	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr6:30684200-30685000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr6:30684200-30685000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr6:30684200-30685000	Flanking Active TSS	NH-A	brain
12	chr6:30684200-30685800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:30684200-30685800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:30684200-30685800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:30684200-30685800	Active TSS	Brain Substantia Nigra	brain
16	chr6:30684200-30685800	Active TSS	Colon Smooth Muscle	Colon
17	chr6:30684200-30686000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:30684200-30686200	Active TSS	Fetal Brain Female	brain
19	chr6:30684200-30686400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:30684200-30686800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:30684400-30685000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr6:30684400-30685000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr6:30684400-30685000	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr6:30684400-30685000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr6:30684400-30685000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:30684400-30685000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr6:30684400-30685000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr6:30684400-30685000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:30684400-30685000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:30684400-30685000	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr6:30684400-30685000	Flanking Active TSS	Fetal Thymus	thymus
32	chr6:30684400-30685000	Flanking Active TSS	HUVEC	blood vessel
33	chr6:30684400-30685600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:30684400-30685600	Active TSS	NHLF	lung
35	chr6:30684400-30685800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:30684400-30685800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr6:30684400-30685800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:30684400-30686000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:30684400-30686400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr6:30684400-30687000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:30684400-30690200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr6:30684600-30685000	Flanking Bivalent TSS/Enh	HepG2	liver
43	chr6:30684600-30685200	Active TSS	Lung	lung
44	chr6:30684600-30685600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:30684600-30685600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:30684600-30685600	Active TSS	Gastric	stomach
47	chr6:30684600-30685800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:30684600-30685800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr6:30684600-30685800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:30684600-30685800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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