Variant report

Variant	rs2232419
Chromosome Location	chr6:28367768-28367769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:375)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr6:28367051-28367885	GM12878	blood:	n/a	n/a
2	TBL1XR1	chr6:28367374-28367893	K562	blood:	n/a	n/a
3	WRNIP1	chr6:28367014-28367969	GM12878	blood:	n/a	n/a
4	REST	chr6:28366753-28368307	H1-neurons	neurons:	n/a	n/a
5	MAX	chr6:28367075-28367839	HepG2	liver:	n/a	n/a
6	ELF1	chr6:28366977-28367871	HepG2	liver:	n/a	chr6:28367536-28367545
7	SP2	chr6:28367118-28368033	H1-hESC	embryonic stem cell:	n/a	n/a
8	SMC3	chr6:28367331-28368031	GM12878	blood:	n/a	n/a
9	RCOR1	chr6:28367136-28368023	K562	blood:	n/a	n/a
10	CEBPD	chr6:28367221-28367892	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:28367149-28368043	GM12892	blood:	n/a	n/a
12	SP1	chr6:28367316-28367852	GM12878	blood:	n/a	chr6:28367612-28367619
13	BCLAF1	chr6:28367227-28368001	GM12878	blood:	n/a	chr6:28367536-28367545 chr6:28367788-28367797
14	POLR2A	chr6:28367177-28367906	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr6:28367198-28367952	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr6:28367306-28367770	K562	blood:	n/a	n/a
17	CREB1	chr6:28367293-28367914	GM12878	blood:	n/a	n/a
18	JUND	chr6:28367345-28367804	A549	lung:	n/a	n/a
19	POLR2A	chr6:28367278-28367873	PFSK-1	brain:	n/a	n/a
20	POU2F2	chr6:28367329-28367831	GM12878	blood:	n/a	chr6:28367391-28367403
21	YY1	chr6:28367392-28367802	GM12892	blood:	n/a	chr6:28367568-28367582
22	PML	chr6:28366729-28368095	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:28367270-28367889	A549	lung:	n/a	n/a
24	POLR2A	chr6:28366965-28367959	K562	blood:	n/a	n/a
25	MAFK	chr6:28367412-28367924	K562	blood:	n/a	chr6:28367731-28367746
26	ZMIZ1	chr6:28367334-28367963	K562	blood:	n/a	n/a
27	TEAD4	chr6:28367275-28367876	HepG2	liver:	n/a	n/a
28	TAF1	chr6:28367330-28367815	SK-N-SH	brain:	n/a	n/a
29	RAD21	chr6:28367391-28367983	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr6:28367438-28367792	GM12878	blood:	n/a	n/a
31	MAZ	chr6:28367209-28368013	GM12878	blood:	n/a	n/a
32	MYC	chr6:28366941-28367924	K562	blood:	n/a	n/a
33	NFIC	chr6:28367074-28368059	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:28367179-28367945	GM18526	blood:	n/a	n/a
35	POLR2A	chr6:28367002-28368082	K562	blood:	n/a	n/a
36	BHLHE40	chr6:28367191-28367852	K562	blood:	n/a	chr6:28367342-28367358
37	MAX	chr6:28367315-28368027	GM12878	blood:	n/a	n/a
38	TAF7	chr6:28367323-28367806	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr6:28367258-28367840	GM12891	blood:	n/a	n/a
40	TAF1	chr6:28366960-28368055	K562	blood:	n/a	n/a
41	HDAC2	chr6:28367334-28367961	K562	blood:	n/a	n/a
42	EGR1	chr6:28367290-28367840	H1-hESC	embryonic stem cell:	n/a	chr6:28367459-28367473 chr6:28367582-28367591
43	CHD1	chr6:28366776-28367885	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr6:28367312-28367827	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:28366742-28367902	IMR90	lung:	n/a	n/a
46	ELF1	chr6:28367243-28367883	SK-N-SH	brain:	n/a	chr6:28367536-28367545
47	TAF1	chr6:28367272-28367914	GM12891	blood:	n/a	n/a
48	POLR2A	chr6:28367038-28367967	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr6:28367209-28367860	K562	blood:	n/a	n/a
50	POLR2A	chr6:28367112-28367884	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:28367749-28367799	AG04450	lung:	fetal
2	chr6:28367749-28367799	SK-N-SH	brain:	n/a
3	chr6:28367749-28367799	BJ	skin:	n/a
4	chr6:28367749-28367799	HUVEC	blood vessel:	n/a
5	chr6:28367749-28367799	SAEC	small airway:	n/a
6	chr6:28367749-28367799	ovcar-3	ovarian:	n/a
7	chr6:28367749-28367799	GM12891	blood:	n/a
8	chr6:28367749-28367799	HEK293	kidney:	embryo
9	chr6:28367749-28367799	RPTEC	kidney:	n/a
10	chr6:28367749-28367799	GM06990	blood:	n/a
11	chr6:28367749-28367799	MCF-7	breast:	n/a
12	chr6:28367749-28367799	A549	lung:	n/a
13	chr6:28367749-28367799	T-47D	breast:	n/a
14	chr6:28367749-28367799	PANC-1	pancreas:	n/a
15	chr6:28367749-28367799	Hepatocyte	liver:	n/a
16	chr6:28367749-28367799	HRPEpiC	eye:	n/a
17	chr6:28367749-28367799	HCF	heart:	n/a
18	chr6:28367749-28367799	AG04449	skin:	fetal
19	chr6:28367749-28367799	SK-N-MC	brain:	n/a
20	chr6:28367749-28367799	CMK	blood:	n/a
21	chr6:28367749-28367799	ECC-1	luminal epithelium:	n/a
22	chr6:28367749-28367799	HEEpiC	esophagus:	n/a
23	chr6:28367749-28367799	BE2_C	brain:	n/a
24	chr6:28367749-28367799	HepG2	liver:	n/a
25	chr6:28367749-28367799	LNCaP	prostate:	n/a
26	chr6:28367749-28367799	HL-60	blood:	n/a
27	chr6:28367749-28367799	Jurkat	blood:	n/a
28	chr6:28367749-28367799	GM12892	blood:	n/a
29	chr6:28367749-28367799	ProgFib	skin:	n/a
30	chr6:28367749-28367799	AG09309	skin:	n/a
31	chr6:28367749-28367799	NT2-D1	testis:	n/a
32	chr6:28367749-28367799	AG10803	skin:	n/a
33	chr6:28367749-28367799	GM12878	blood:	n/a
34	chr6:28367749-28367799	HAEpiC	amniotic membrane:	n/a
35	chr6:28367749-28367799	HIPEpiC	eye:	n/a
36	chr6:28367749-28367799	NH-A	brain:	n/a
37	chr6:28367749-28367799	PFSK-1	brain:	n/a
38	chr6:28367749-28367799	Hela-S3	cervix:	n/a
39	chr6:28367749-28367799	Caco-2	colon:	n/a
40	chr6:28367749-28367799	HCM	heart:	n/a
41	chr6:28367749-28367799	K562	blood:	n/a
42	chr6:28367749-28367799	HRE	kidney:	n/a
43	chr6:28367749-28367799	HNPCEpiC	eye:	n/a
44	chr6:28367749-28367799	HPAEpiC	pulmonary alveolar:	n/a
45	chr6:28367749-28367799	GM19239	blood:	n/a
46	chr6:28367749-28367799	NHDF-neo	bronchial:	n/a
47	chr6:28367749-28367799	SK-N-SH_RA	brain:	n/a
48	chr6:28367749-28367799	NB4	blood:	n/a
49	chr6:28367749-28367799	AG09319	gingival:	n/a
50	chr6:28367749-28367799	HRCEpiC	kidney:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28366385..28368709-chr6:28493666..28495776,2	K562	blood:
2	chr6:28315597..28319153-chr6:28366055..28369015,3	K562	blood:
3	chr6:28364231..28371937-chr6:28372195..28378158,17	K562	blood:
4	chr6:28367674..28369905-chr6:28510832..28512890,2	K562	blood:
5	chr6:28366682..28368772-chr6:28423873..28426480,2	K562	blood:
6	chr6:28082452..28085124-chr6:28366168..28368167,2	K562	blood:
7	chr6:28302165..28304933-chr6:28366158..28368845,2	K562	blood:
8	chr11:10829981..10830691-chr6:28367328..28367828,2	Hela-S3	cervix:
9	chr6:28191542..28193155-chr6:28365970..28368318,2	K562	blood:
10	chr6:28225119..28227553-chr6:28366156..28368716,2	K562	blood:
11	chr6:28366328..28368330-chr6:28583082..28585639,2	K562	blood:
12	chr6:28103668..28105670-chr6:28367426..28369293,3	K562	blood:
13	chr6:28044681..28046793-chr6:28367579..28369114,2	K562	blood:
14	chr6:28366328..28369247-chr6:28582607..28584582,2	K562	blood:
15	chr6:27857864..27860590-chr6:28365932..28368425,2	K562	blood:
16	chr6:28191542..28194803-chr6:28365970..28368645,4	K562	blood:
17	chr6:28109524..28111212-chr6:28366058..28368601,2	K562	blood:

No data

Variant related genes	Relation type
ZSCAN12	TF binding region
ZSCAN12	CpG island
ENSG00000224586	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000219262	Chromatin interaction
ENSG00000110321	Chromatin interaction
ENSG00000232040	Chromatin interaction
ENSG00000189134	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000251877	Chromatin interaction
ENSG00000219392	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000189298	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1015690	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10484540	0.81[EUR][1000 genomes]
rs10484541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661782	0.88[LWK][hapmap];1.00[YRI][hapmap]
rs1555046	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1555047	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1556957	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16893801	0.82[CHB][hapmap]
rs16894012	0.86[AFR][1000 genomes]
rs16894038	0.93[AFR][1000 genomes]
rs16894121	1.00[CEU][hapmap]
rs17313059	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17313276	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17314224	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17314865	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs17314991	0.82[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs17315340	0.81[EUR][1000 genomes]
rs17315648	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17315739	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17316033	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17392982	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17393066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17393342	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs17393506	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17393786	0.81[EUR][1000 genomes]
rs17393918	0.81[EUR][1000 genomes]
rs17393939	0.81[EUR][1000 genomes]
rs17720687	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2027362	0.81[EUR][1000 genomes]
rs2072318	0.81[EUR][1000 genomes]
rs2072319	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs213231	0.85[CEU][hapmap]
rs2232434	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2232438	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2299030	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap]
rs3734562	0.81[EUR][1000 genomes]
rs56001748	0.81[EUR][1000 genomes]
rs56241479	0.81[EUR][1000 genomes]
rs56787378	0.81[EUR][1000 genomes]
rs57126418	0.81[EUR][1000 genomes]
rs57204212	0.81[EUR][1000 genomes]
rs59732975	0.81[EUR][1000 genomes]
rs60184496	0.81[EUR][1000 genomes]
rs60660967	0.81[EUR][1000 genomes]
rs6915122	0.81[EUR][1000 genomes]
rs73740620	0.81[EUR][1000 genomes]
rs73740622	0.81[EUR][1000 genomes]
rs73740623	0.81[EUR][1000 genomes]
rs73742547	0.81[EUR][1000 genomes]
rs73742550	0.81[EUR][1000 genomes]
rs73742551	0.81[EUR][1000 genomes]
rs73742555	0.81[EUR][1000 genomes]
rs73742558	0.81[EUR][1000 genomes]
rs758396	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7757215	0.89[CHD][hapmap]
rs7774788	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9717944	0.81[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28366000-28368000	Active TSS	HSMMtube	muscle
2	chr6:28366000-28368200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:28366000-28368200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:28366000-28368200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:28366000-28368200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:28366200-28367800	Active TSS	Muscle Satellite Cultured Cells	--
7	chr6:28366200-28367800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:28366200-28368000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:28366200-28368000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:28366200-28368000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:28366200-28368000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:28366200-28368000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:28366200-28368000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:28366200-28368000	Active TSS	Placenta Amnion	Placenta Amnion
15	chr6:28366200-28368200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:28366200-28368200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:28366200-28368200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:28366200-28368200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:28366200-28368200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:28366200-28368200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:28366200-28368200	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr6:28366200-28368200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:28366200-28368200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr6:28366200-28368200	Active TSS	Fetal Intestine Small	intestine
25	chr6:28366200-28368200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:28366200-28368200	Active TSS	Stomach Smooth Muscle	stomach
27	chr6:28366200-28368200	Active TSS	K562	blood
28	chr6:28366200-28368400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:28366200-28368400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:28366200-28368400	Active TSS	Brain Anterior Caudate	brain
31	chr6:28366200-28368400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr6:28366200-28368400	Active TSS	Osteobl	bone
33	chr6:28366400-28367800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:28366400-28367800	Active TSS	GM12878-XiMat	blood
35	chr6:28366400-28367800	Active TSS	Hela-S3	cervix
36	chr6:28366400-28367800	Active TSS	HMEC	breast
37	chr6:28366400-28368000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:28366400-28368000	Active TSS	Colon Smooth Muscle	Colon
39	chr6:28366400-28368200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:28366400-28368200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:28366400-28368200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:28366400-28368200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:28366400-28368200	Active TSS	Brain Hippocampus Middle	brain
44	chr6:28366400-28368400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:28366400-28368400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:28366400-28368400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr6:28366400-28368400	Active TSS	Fetal Brain Female	brain
48	chr6:28366400-28368400	Active TSS	NHDF-Ad	bronchial
49	chr6:28366400-28368400	Active TSS	NHLF	lung
50	chr6:28366600-28367800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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