Variant report

Variant	rs73417634
Chromosome Location	chr12:122501566-122501567
allele	C/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	MAX	chr12:122501114-122503123	K562	blood:	n/a	chr12:122502834-122502843 chr12:122501211-122501221 chr12:122502164-122502174
2	TEAD4	chr12:122501014-122501666	K562	blood:	n/a	n/a
3	GABPA	chr12:122500689-122501657	A549	lung:	n/a	n/a
4	SIN3AK20	chr12:122500779-122501711	MCF-7	breast:	n/a	n/a
5	TCF12	chr12:122500478-122503084	A549	lung:	n/a	chr12:122501076-122501085
6	JUND	chr12:122501102-122501666	A549	lung:	n/a	chr12:122501405-122501413 chr12:122501406-122501417 chr12:122501403-122501415 chr12:122501405-122501412
7	POLR2A	chr12:122500717-122503319	PFSK-1	brain:	n/a	n/a
8	TCF7L2	chr12:122501009-122501660	MCF-7	breast:	n/a	n/a
9	NR2F2	chr12:122500499-122502388	MCF-7	breast:	n/a	n/a
10	JUND	chr12:122500675-122501613	A549	lung:	n/a	chr12:122501405-122501413 chr12:122501406-122501417 chr12:122501403-122501415 chr12:122501405-122501412
11	FOSL2	chr12:122501178-122501612	A549	lung:	n/a	chr12:122501405-122501413 chr12:122501406-122501417 chr12:122501403-122501415 chr12:122501405-122501412
12	MAX	chr12:122500929-122501632	MCF-7	breast:	n/a	chr12:122501211-122501221
13	FOSL2	chr12:122500960-122501626	HepG2	liver:	n/a	chr12:122501405-122501413 chr12:122501406-122501417 chr12:122501403-122501415 chr12:122501405-122501412
14	GATA3	chr12:122500614-122501801	MCF-7	breast:	n/a	n/a
15	HDAC2	chr12:122500642-122502014	MCF-7	breast:	n/a	chr12:122501076-122501085
16	CTCF	chr12:122501420-122501570	NHLF	lung:	n/a	n/a
17	FOSL2	chr12:122500820-122501703	MCF-7	breast:	n/a	chr12:122501405-122501413 chr12:122501406-122501417 chr12:122501403-122501415 chr12:122501405-122501412
18	NR2F2	chr12:122500579-122503676	K562	blood:	n/a	n/a
19	POLR2A	chr12:122500699-122502538	HUVEC	blood vessel:	n/a	n/a
20	REST	chr12:122500595-122501570	A549	lung:	n/a	chr12:122500899-122500912
21	SPI1	chr12:122501004-122501627	HL-60	blood:	n/a	chr12:122501299-122501312 chr12:122501302-122501309 chr12:122501270-122501277
22	GABPA	chr12:122500679-122501683	MCF-7	breast:	n/a	n/a
23	POLR2A	chr12:122501019-122503330	HCT-116	colon:	n/a	n/a
24	CTCF	chr12:122501500-122501650	A549	lung:	n/a	n/a
25	CTCF	chr12:122501520-122501670	HCT-116	colon:	n/a	n/a
26	MAZ	chr12:122501009-122503182	K562	blood:	n/a	chr12:122502834-122502843 chr12:122501211-122501221
27	EP300	chr12:122500717-122501670	A549	lung:	n/a	chr12:122501076-122501086
28	CTCF	chr12:122501460-122501610	NB4	blood:	n/a	n/a
29	MAX	chr12:122500874-122503239	NB4	blood:	n/a	chr12:122502834-122502843 chr12:122501211-122501221 chr12:122502164-122502174
30	POLR2A	chr12:122500680-122501880	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr12:122500659-122502534	MCF-7	breast:	n/a	chr12:122501211-122501221 chr12:122502164-122502174
32	TFAP2A	chr12:122501145-122501950	Hela-S3	cervix:	n/a	chr12:122501753-122501768 chr12:122501424-122501439 chr12:122501751-122501765 chr12:122501547-122501557 chr12:122501751-122501765 chr12:122501751-122501765
33	FOSL2	chr12:122501050-122501640	MCF-7	breast:	n/a	chr12:122501405-122501413 chr12:122501406-122501417 chr12:122501403-122501415 chr12:122501405-122501412
34	POLR2A	chr12:122500556-122501673	HUVEC	blood vessel:	n/a	n/a
35	GATA3	chr12:122500665-122502283	MCF-7	breast:	n/a	n/a
36	SIN3AK20	chr12:122500496-122502361	MCF-7	breast:	n/a	n/a
37	MAX	chr12:122500753-122503262	HCT-116	colon:	n/a	chr12:122502834-122502843 chr12:122501211-122501221 chr12:122502164-122502174
38	RCOR1	chr12:122501354-122503140	K562	blood:	n/a	n/a
39	CTCF	chr12:122501520-122501670	BE2_C	brain:	n/a	n/a
40	CTCF	chr12:122501560-122501710	HPAF	blood vessel:	n/a	n/a
41	HDAC2	chr12:122500646-122501744	MCF-7	breast:	n/a	chr12:122501076-122501085
42	CBX3	chr12:122501056-122501569	K562	blood:	n/a	n/a
43	RCOR1	chr12:122501254-122502684	HepG2	liver:	n/a	n/a
44	BCL3	chr12:122500508-122502854	A549	lung:	n/a	n/a
45	MAX	chr12:122500593-122503213	HepG2	liver:	n/a	chr12:122502834-122502843 chr12:122501211-122501221 chr12:122502164-122502174
46	CTCF	chr12:122500909-122502342	A549	lung:	n/a	n/a
47	POLR2A	chr12:122500701-122501590	MCF-7	breast:	n/a	n/a
48	E2F6	chr12:122500692-122502692	A549	lung:	n/a	chr12:122502213-122502224 chr12:122501177-122501188
49	KAP1	chr12:122500702-122501607	HEK293	kidney:	n/a	chr12:122501403-122501412
50	TFAP2C	chr12:122501172-122502056	Hela-S3	cervix:	n/a	chr12:122501422-122501437

No.	Distal block	Cell Line	Cell type
1	chr12:122501303..122502101-chr12:122615197..122616147,3	K562	blood:
2	chr12:122237524..122241320-chr12:122500575..122503777,5	K562	blood:
3	chr12:122459405..122462233-chr12:122501246..122503627,3	MCF-7	breast:
4	chr12:122237524..122241121-chr12:122501436..122503777,3	K562	blood:
5	chr12:122459539..122463256-chr12:122498402..122502892,4	MCF-7	breast:
6	chr12:122501321..122503552-chr12:122505833..122508072,2	K562	blood:
7	chr12:122459811..122462052-chr12:122500619..122502679,2	K562	blood:
8	chr12:122499616..122503062-chr12:122514965..122517800,5	MCF-7	breast:
9	chr12:122499171..122504349-chr12:122514733..122520643,17	K562	blood:

Variant related genes	Relation type
ENSG00000256546	TF binding region
ENSG00000110987	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73417621	0.84[AFR][1000 genomes]
rs73417629	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73417632	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73417638	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122472000-122507200	Weak transcription	Fetal Brain Male	brain
2	chr12:122492600-122505600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:122492800-122501600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122497600-122502400	Enhancers	Ovary	ovary
5	chr12:122498400-122502400	Weak transcription	HSMMtube	muscle
6	chr12:122500000-122501600	Genic enhancers	Thymus	Thymus
7	chr12:122500000-122501800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:122500000-122501800	Enhancers	HMEC	breast
9	chr12:122500000-122502200	Enhancers	Pancreas	Pancrea
10	chr12:122500000-122502600	Enhancers	Liver	Liver
11	chr12:122500000-122502600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr12:122500000-122503400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:122500000-122503600	Enhancers	Right Ventricle	heart
14	chr12:122500000-122504600	Enhancers	Stomach Mucosa	stomach
15	chr12:122500200-122501600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:122500200-122501800	Enhancers	NHEK	skin
17	chr12:122500200-122502200	Enhancers	NHDF-Ad	bronchial
18	chr12:122500200-122502600	Enhancers	Gastric	stomach
19	chr12:122500200-122503200	Enhancers	Brain Hippocampus Middle	brain
20	chr12:122500200-122503400	Enhancers	Lung	lung
21	chr12:122500200-122506000	Weak transcription	Dnd41	blood
22	chr12:122500400-122502200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:122500400-122502400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:122500400-122502400	Enhancers	NHLF	lung
25	chr12:122500400-122503600	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:122500600-122501600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:122500600-122501600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:122500600-122501600	Flanking Active TSS	Hela-S3	cervix
29	chr12:122500600-122502000	Flanking Active TSS	Fetal Lung	lung
30	chr12:122500600-122502000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr12:122500600-122502200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:122500600-122502200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:122500600-122502200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:122500600-122502200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr12:122500600-122502200	Enhancers	HSMM	muscle
36	chr12:122500600-122502400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:122500600-122502400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:122500600-122502400	Enhancers	Aorta	Aorta
39	chr12:122500600-122502400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr12:122500600-122502400	Flanking Active TSS	A549	lung
41	chr12:122500600-122502400	Enhancers	NH-A	brain
42	chr12:122500600-122502600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:122500600-122502600	Enhancers	Esophagus	oesophagus
44	chr12:122500600-122502600	Enhancers	Small Intestine	intestine
45	chr12:122500600-122502800	Enhancers	Spleen	Spleen
46	chr12:122500600-122503000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:122500600-122503200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:122500600-122503200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:122500600-122503200	Enhancers	Brain Substantia Nigra	brain
50	chr12:122500600-122503200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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