Variant report

Variant	rs2273883
Chromosome Location	chr6:36410801-36410802
allele	G/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	KAP1	chr6:36410293-36411009	HEK293	kidney:	n/a	n/a
2	POLR2A	chr6:36410309-36411349	Hela-S3	cervix:	n/a	n/a
3	MAFK	chr6:36410477-36410882	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr6:36410320-36411012	GM12892	blood:	n/a	n/a
5	USF1	chr6:36410499-36410949	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr6:36410392-36411281	GM15510	blood:	n/a	n/a
7	HNF4G	chr6:36410421-36410971	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:36410345-36411359	HCT-116	colon:	n/a	n/a
9	CTBP2	chr6:36410573-36411160	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr6:36410286-36411557	SK-N-SH	brain:	n/a	chr6:36410940-36410950 chr6:36410700-36410709
11	MTA3	chr6:36410057-36412223	GM12878	blood:	n/a	n/a
12	BHLHE40	chr6:36410358-36410988	K562	blood:	n/a	n/a
13	TBP	chr6:36410208-36410841	GM12878	blood:	n/a	n/a
14	TEAD4	chr6:36410608-36411081	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr6:36410368-36410977	A549	lung:	n/a	chr6:36410940-36410950 chr6:36410700-36410709
16	TCF7L2	chr6:36410371-36410848	Hela-S3	cervix:	n/a	chr6:36410736-36410745
17	REST	chr6:36410222-36411494	H1-neurons	neurons:	n/a	chr6:36410617-36410635
18	MAX	chr6:36410286-36411390	HepG2	liver:	n/a	chr6:36410940-36410950 chr6:36410700-36410709
19	FOSL1	chr6:36410382-36411008	K562	blood:	n/a	chr6:36410736-36410746 chr6:36410736-36410746 chr6:36410736-36410746 chr6:36410737-36410745 chr6:36410735-36410747 chr6:36410735-36410746
20	YY1	chr6:36410454-36411033	SK-N-SH_RA	brain:	n/a	chr6:36410942-36410951 chr6:36410998-36411007 chr6:36410895-36410904
21	EP300	chr6:36410253-36410834	GM12878	blood:	n/a	n/a
22	JUND	chr6:36410339-36411047	K562	blood:	n/a	chr6:36410735-36410746 chr6:36410736-36410746 chr6:36410736-36410746 chr6:36410736-36410746 chr6:36410737-36410745 chr6:36410735-36410747
23	NFATC1	chr6:36410332-36410815	GM12878	blood:	n/a	n/a
24	JUND	chr6:36410500-36410932	H1-hESC	embryonic stem cell:	n/a	chr6:36410735-36410746 chr6:36410736-36410746 chr6:36410736-36410746 chr6:36410736-36410746 chr6:36410737-36410745 chr6:36410735-36410747
25	REST	chr6:36410304-36410808	A549	lung:	n/a	chr6:36410617-36410635
26	ZBTB7A	chr6:36410558-36410802	HepG2	liver:	n/a	n/a
27	TAF1	chr6:36410323-36411154	ECC-1	luminal epithelium:	n/a	n/a
28	RELA	chr6:36410182-36410927	GM19099	blood:	n/a	n/a
29	POLR2A	chr6:36409846-36411444	HepG2	liver:	n/a	n/a
30	PML	chr6:36410431-36410821	GM12878	blood:	n/a	n/a
31	CTCF	chr6:36410601-36410819	MCF-7	breast:	n/a	n/a
32	EP300	chr6:36410519-36410913	SK-N-SH_RA	brain:	n/a	n/a
33	ELF1	chr6:36410419-36410902	HepG2	liver:	n/a	n/a
34	ZKSCAN1	chr6:36410442-36410905	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr6:36410444-36411089	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr6:36409868-36411331	K562	blood:	n/a	n/a
37	MEF2A	chr6:36410358-36410963	GM12878	blood:	n/a	n/a
38	RCOR1	chr6:36410266-36410976	GM12878	blood:	n/a	n/a
39	RELA	chr6:36410243-36411243	GM18505	blood:	n/a	n/a
40	POLR2A	chr6:36410366-36411229	HepG2	liver:	n/a	n/a
41	E2F6	chr6:36410645-36410951	K562	blood:	n/a	chr6:36410942-36410951 chr6:36410895-36410904
42	FOSL2	chr6:36410399-36411013	MCF-7	breast:	n/a	chr6:36410736-36410746 chr6:36410736-36410746 chr6:36410736-36410746 chr6:36410737-36410745 chr6:36410735-36410747
43	ZBTB7A	chr6:36410419-36411293	ECC-1	luminal epithelium:	n/a	n/a
44	YY1	chr6:36410335-36411024	GM12878	blood:	n/a	chr6:36410942-36410951 chr6:36410998-36411007 chr6:36410895-36410904
45	GABPA	chr6:36410406-36411205	K562	blood:	n/a	n/a
46	CCNT2	chr6:36410416-36411247	K562	blood:	n/a	n/a
47	SP1	chr6:36410350-36410860	GM12878	blood:	n/a	n/a
48	EP300	chr6:36410153-36410910	K562	blood:	n/a	chr6:36410156-36410165
49	ELF1	chr6:36410356-36411276	GM12878	blood:	n/a	chr6:36410998-36411007
50	FOS	chr6:36410113-36410851	MCF10A-Er-Src	breast:	n/a	chr6:36410257-36410266 chr6:36410736-36410746 chr6:36410736-36410746 chr6:36410736-36410746 chr6:36410735-36410746 chr6:36410737-36410745 chr6:36410735-36410747

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:36410757-36410807	HCM	heart:	n/a
2	chr6:36410757-36410807	Hela-S3	cervix:	n/a
3	chr6:36410757-36410807	HUVEC	blood vessel:	n/a
4	chr6:36410757-36410807	K562	blood:	n/a
5	chr6:36410757-36410807	Caco-2	colon:	n/a
6	chr6:36410757-36410807	HRCEpiC	kidney:	n/a
7	chr6:36410757-36410807	ProgFib	skin:	n/a
8	chr6:36410757-36410807	HCT-116	colon:	n/a
9	chr6:36410757-36410807	AoSMC	blood vessel:	n/a
10	chr6:36410757-36410807	PFSK-1	brain:	n/a
11	chr6:36410757-36410807	NHDF-neo	bronchial:	n/a
12	chr6:36410757-36410807	BJ	skin:	n/a
13	chr6:36410757-36410807	GM12892	blood:	n/a
14	chr6:36410757-36410807	SAEC	small airway:	n/a
15	chr6:36410757-36410807	AG09309	skin:	n/a
16	chr6:36410757-36410807	A549	lung:	n/a
17	chr6:36410757-36410807	NHBE	bronchial:	n/a
18	chr6:36410757-36410807	HL-60	blood:	n/a
19	chr6:36410757-36410807	GM12891	blood:	n/a
20	chr6:36410757-36410807	NB4	blood:	n/a
21	chr6:36410757-36410807	HEK293	kidney:	embryo
22	chr6:36410757-36410807	RPTEC	kidney:	n/a
23	chr6:36410757-36410807	H1-hESC	embryonic stem cell:	embryo
24	chr6:36410757-36410807	AG10803	skin:	n/a
25	chr6:36410757-36410807	MCF-7	breast:	n/a
26	chr6:36410757-36410807	HCPEpiC	choroid plexus:	n/a
27	chr6:36410757-36410807	SK-N-MC	brain:	n/a
28	chr6:36410757-36410807	HPAEpiC	pulmonary alveolar:	n/a
29	chr6:36410757-36410807	IMR90	lung:	fetal
30	chr6:36410757-36410807	HNPCEpiC	eye:	n/a
31	chr6:36410757-36410807	LNCaP	prostate:	n/a
32	chr6:36410757-36410807	NT2-D1	testis:	n/a
33	chr6:36410757-36410807	BE2_C	brain:	n/a
34	chr6:36410757-36410807	GM19239	blood:	n/a
35	chr6:36410757-36410807	AG04450	lung:	fetal
36	chr6:36410757-36410807	SK-N-SH	brain:	n/a
37	chr6:36410757-36410807	T-47D	breast:	n/a
38	chr6:36410757-36410807	PANC-1	pancreas:	n/a
39	chr6:36410757-36410807	HIPEpiC	eye:	n/a
40	chr6:36410757-36410807	HRE	kidney:	n/a
41	chr6:36410757-36410807	SKMC	muscle:	n/a
42	chr6:36410757-36410807	HepG2	liver:	n/a
43	chr6:36410757-36410807	AG09319	gingival:	n/a
44	chr6:36410757-36410807	NH-A	brain:	n/a
45	chr6:36410757-36410807	HMEC	breast:	n/a
46	chr6:36410757-36410807	PrEC	prostate:	n/a
47	chr6:36410757-36410807	SK-N-SH_RA	brain:	n/a
48	chr6:36410757-36410807	AG04449	skin:	fetal
49	chr6:36410757-36410807	MCF10A-Er-Src	breast:	n/a
50	chr6:36410757-36410807	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36409676..36411524-chr6:36561404..36563717,3	MCF-7	breast:
2	chr6:36408693..36414213-chr6:36560362..36565197,15	MCF-7	breast:
3	chr6:35995997..35997566-chr6:36410510..36413079,2	K562	blood:
4	chr6:30687753..30689397-chr6:36409717..36412070,2	K562	blood:
5	chr6:36352878..36356022-chr6:36409199..36411763,4	K562	blood:
6	chr6:36403741..36414959-chr6:36560215..36569964,50	K562	blood:
7	chr17:2239550..2240086-chr6:36410210..36410884,2	Hela-S3	cervix:
8	chr6:36406846..36414829-chr6:36558734..36566025,43	K562	blood:
9	chr6:36409344..36412329-chr6:36513269..36516052,4	MCF-7	breast:
10	chr5:137673586..137674509-chr6:36410599..36411485,3	Hela-S3	cervix:
11	chr5:41869596..41870283-chr6:36410251..36411080,2	Hela-S3	cervix:
12	chr19:675464..676459-chr6:36410143..36410926,2	Hela-S3	cervix:
13	chr11:61581195..61582123-chr6:36410293..36410928,2	Hela-S3	cervix:
14	chr5:44808698..44809442-chr6:36410427..36411129,2	Hela-S3	cervix:
15	chr6:36409184..36410963-chr6:36513836..36516900,3	K562	blood:
16	chr6:36410473..36414235-chr6:36416429..36423107,7	MCF-7	breast:
17	chr16:29972861..29973477-chr6:36410425..36410960,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PNPLA1-1	chr6:36410789-36410888	NONHSAT112216

Variant related genes	Relation type
KCTD20	TF binding region
PXT1	TF binding region
KCTD20	CpG island
PXT1	CpG island
ENSG00000149485	Chromatin interaction
ENSG00000112996	Chromatin interaction
ENSG00000120709	Chromatin interaction
ENSG00000158402	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000149932	Chromatin interaction
ENSG00000251141	Chromatin interaction
ENSG00000010030	Chromatin interaction
ENSG00000224666	Chromatin interaction
ENSG00000167721	Chromatin interaction
ENSG00000070404	Chromatin interaction
ENSG00000112062	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000112079	Chromatin interaction
ENSG00000240733	Chromatin interaction
ENSG00000248668	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16888788	0.80[AMR][1000 genomes]
rs2239541	0.86[AMR][1000 genomes]
rs2267930	0.88[AMR][1000 genomes]
rs2273882	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3819759	0.82[AMR][1000 genomes]
rs4236051	0.88[AMR][1000 genomes]
rs4711451	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4713976	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4713977	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 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	chr6:36409200-36411800	Active TSS	Brain Anterior Caudate	brain
2	chr6:36409600-36411600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr6:36409600-36411600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:36409600-36412200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:36409800-36412400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr6:36410000-36411800	Active TSS	Small Intestine	intestine
7	chr6:36410000-36412000	Active TSS	Liver	Liver
8	chr6:36410000-36412000	Active TSS	Right Ventricle	heart
9	chr6:36410000-36412200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:36410200-36411400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:36410200-36411400	Active TSS	Fetal Brain Female	brain
12	chr6:36410200-36411600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:36410200-36411600	Active TSS	Brain Germinal Matrix	brain
14	chr6:36410200-36411600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:36410200-36411800	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr6:36410200-36411800	Active TSS	Brain Angular Gyrus	brain
17	chr6:36410200-36411800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:36410200-36411800	Active TSS	Colon Smooth Muscle	Colon
19	chr6:36410200-36411800	Active TSS	Fetal Kidney	kidney
20	chr6:36410200-36411800	Active TSS	Psoas Muscle	Psoas
21	chr6:36410200-36411800	Active TSS	Thymus	Thymus
22	chr6:36410200-36412000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr6:36410200-36412000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:36410200-36412000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:36410200-36412000	Active TSS	Brain Substantia Nigra	brain
26	chr6:36410200-36412000	Active TSS	Fetal Intestine Large	intestine
27	chr6:36410200-36412000	Bivalent/Poised TSS	HepG2	liver
28	chr6:36410200-36412200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr6:36410200-36412200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:36410200-36412200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:36410200-36412200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:36410200-36412200	Active TSS	Aorta	Aorta
33	chr6:36410200-36412200	Active TSS	Fetal Muscle Trunk	muscle
34	chr6:36410200-36412200	Active TSS	Ovary	ovary
35	chr6:36410200-36412200	Active TSS	A549	lung
36	chr6:36410400-36411000	Transcr. at gene 5' and 3'	Right Atrium	heart
37	chr6:36410400-36411400	Active TSS	Primary T cells from cord blood	blood
38	chr6:36410400-36411400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:36410400-36411400	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr6:36410400-36411400	Active TSS	Spleen	Spleen
41	chr6:36410400-36411600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:36410400-36411600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:36410400-36411600	Active TSS	Primary B cells from peripheral blood	blood
44	chr6:36410400-36411600	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr6:36410400-36411600	Active TSS	Fetal Brain Male	brain
46	chr6:36410400-36411600	Active TSS	Gastric	stomach
47	chr6:36410400-36411600	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr6:36410400-36411600	Active TSS	Stomach Mucosa	stomach
49	chr6:36410400-36411600	Active TSS	HMEC	breast
50	chr6:36410400-36411800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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