Variant report

Variant	rs6737094
Chromosome Location	chr2:113401717-113401718
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	NFIC	chr2:113401659-113402422	HepG2	liver:	n/a	n/a
2	HEY1	chr2:113401600-113404264	HepG2	liver:	n/a	chr2:113403494-113403509 chr2:113403936-113403951 chr2:113403952-113403967 chr2:113403956-113403971 chr2:113403984-113403993
3	NR2F2	chr2:113401604-113404921	HepG2	liver:	n/a	n/a
4	FOXA1	chr2:113401545-113402419	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:113401647-113402374	HepG2	liver:	n/a	n/a
6	NR2F2	chr2:113401628-113403847	HepG2	liver:	n/a	n/a
7	RXRA	chr2:113401707-113402409	HepG2	liver:	n/a	n/a
8	FOXA1	chr2:113401516-113402376	HepG2	liver:	n/a	n/a
9	ZEB1	chr2:113401479-113402591	HepG2	liver:	n/a	n/a
10	MYBL2	chr2:113401463-113402396	HepG2	liver:	n/a	n/a
11	BHLHE40	chr2:113401618-113404082	HepG2	liver:	n/a	chr2:113403746-113403762
12	ZNF263	chr2:113401654-113402846	HEK293-T-REx	kidney:	n/a	n/a
13	HDAC2	chr2:113401658-113402378	HepG2	liver:	n/a	n/a
14	SP1	chr2:113401680-113403917	HCT-116	colon:	n/a	chr2:113403301-113403310 chr2:113403330-113403342 chr2:113403684-113403696 chr2:113403331-113403341 chr2:113403331-113403341 chr2:113403684-113403696 chr2:113403330-113403342 chr2:113403300-113403311
15	POLR2A	chr2:113401707-113407973	U87	brain:	n/a	n/a
16	ARID3A	chr2:113401680-113403636	HepG2	liver:	n/a	n/a
17	HNF4A	chr2:113401654-113402314	HepG2	liver:	n/a	n/a
18	EP300	chr2:113401651-113402496	HepG2	liver:	n/a	n/a
19	MYBL2	chr2:113401314-113403720	HepG2	liver:	n/a	n/a
20	NFIC	chr2:113401534-113403137	HepG2	liver:	n/a	n/a
21	EP300	chr2:113401537-113402466	HepG2	liver:	n/a	n/a
22	EP300	chr2:113401119-113401777	K562	blood:	n/a	n/a
23	SP1	chr2:113401610-113402481	HepG2	liver:	n/a	n/a
24	RCOR1	chr2:113401713-113403739	HepG2	liver:	n/a	n/a
25	MAX	chr2:113401626-113404281	HepG2	liver:	n/a	chr2:113403983-113403993 chr2:113403984-113403993 chr2:113403983-113403994 chr2:113403984-113403994 chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403985-113403992 chr2:113403304-113403319 chr2:113403984-113403993
26	MBD4	chr2:113401646-113402952	HepG2	liver:	n/a	n/a
27	FOSL2	chr2:113401681-113402442	HepG2	liver:	n/a	chr2:113402178-113402189
28	FOXA1	chr2:113401590-113402397	HepG2	liver:	n/a	n/a
29	HNF4G	chr2:113401619-113402300	HepG2	liver:	n/a	n/a
30	TEAD4	chr2:113401537-113403696	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:113401693-113404159	HepG2	liver:	n/a	n/a
32	MAX	chr2:113401612-113404851	HepG2	liver:	n/a	chr2:113403983-113403993 chr2:113403984-113403993 chr2:113403983-113403994 chr2:113403984-113403994 chr2:113403288-113403298 chr2:113403306-113403315 chr2:113403985-113403992 chr2:113403304-113403319 chr2:113403984-113403993
33	CHD1	chr2:113401468-113406380	IMR90	lung:	n/a	chr2:113404360-113404367
34	FOXA2	chr2:113401656-113402452	HepG2	liver:	n/a	n/a
35	BRCA1	chr2:113401558-113401908	HepG2	liver:	n/a	n/a
36	MBD4	chr2:113401444-113403657	HepG2	liver:	n/a	n/a
37	CEBPZ	chr2:113401708-113402577	HepG2	liver:	n/a	n/a
38	NR2F2	chr2:113401703-113402455	MCF-7	breast:	n/a	n/a
39	RCOR1	chr2:113401090-113401733	K562	blood:	n/a	n/a
40	HNF4G	chr2:113401658-113402352	HepG2	liver:	n/a	n/a
41	HDAC2	chr2:113401549-113402491	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113379636..113386577-chr2:113398111..113406278,16	MCF-7	breast:
2	chr2:113401688..113406035-chr2:113480430..113485744,11	MCF-7	breast:
3	chr2:113399891..113407010-chr2:113481534..113486055,14	K562	blood:
4	chr2:113400575..113405879-chr2:113475243..113481233,15	K562	blood:
5	chr2:113400910..113403720-chr2:113487016..113489171,3	K562	blood:
6	chr2:113340437..113343949-chr2:113401268..113406617,9	MCF-7	breast:
7	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
8	chr2:113358188..113360377-chr2:113398948..113401833,2	K562	blood:
9	chr2:113339547..113342143-chr2:113401632..113406213,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKAP2L-1	chr2:113401676-113401757	XLOC_002275
2	lnc-CKAP2L-1	chr2:113401676-113403267	ENSG00000237753
3	lnc-CKAP2L-1	chr2:113401676-113402203	NONHSAT073709
4	lnc-CKAP2L-1	chr2:113401556-113403368	NONHSAT073714

Variant related genes	Relation type
SLC20A1	TF binding region
ENSG00000231747	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10177499	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10199279	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1061254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10746527	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10779886	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11123144	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11123145	0.82[AFR][1000 genomes]
rs12994441	0.84[EUR][1000 genomes]
rs12996187	0.84[EUR][1000 genomes]
rs13023311	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17042199	0.83[EUR][1000 genomes]
rs2312699	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34109218	0.90[EUR][1000 genomes]
rs3936697	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4630766	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4848286	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4849087	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4849088	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4849089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4849090	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4849092	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4849093	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4849094	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4849095	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4849096	0.87[AMR][1000 genomes]
rs4849100	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56092429	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61443276	0.84[EUR][1000 genomes]
rs6542069	0.81[EUR][1000 genomes]
rs6747638	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6747928	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6751117	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6793	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72948491	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7558138	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7559775	0.84[EUR][1000 genomes]
rs885346	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][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	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs6737094	AC079922.3	cis	lung	GTEx
rs6737094	AC079922.3	cis	Esophagus Mucosa	GTEx
rs6737094	AC079922.3	cis	Whole Blood	GTEx
rs6737094	AC079922.3	cis	Nerve Tibial	GTEx
rs6737094	AC079922.3	cis	Esophagus Muscularis	GTEx
rs6737094	AC079922.3	cis	Adipose Subcutaneous	GTEx
rs6737094	AC079922.3	cis	Artery Aorta	GTEx
rs6737094	AC079922.3	cis	Thyroid	GTEx
rs6737094	AC079922.3	cis	Heart Left Ventricle	GTEx
rs6737094	AC079922.3	cis	Artery Tibial	GTEx
rs6737094	AC079922.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
2	chr2:113385800-113401800	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:113389400-113402000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:113389600-113402200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:113392800-113402000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:113394400-113402000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:113394600-113402000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:113394800-113402000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:113395000-113402000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:113395200-113401800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:113397000-113401800	Enhancers	HMEC	breast
12	chr2:113397200-113402000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:113397600-113402200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:113398000-113402000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:113398200-113401800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:113398400-113402400	Weak transcription	Aorta	Aorta
17	chr2:113398600-113401800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:113398600-113402200	Weak transcription	Left Ventricle	heart
19	chr2:113398600-113402200	Enhancers	NHDF-Ad	bronchial
20	chr2:113398800-113402000	Enhancers	HUVEC	blood vessel
21	chr2:113398800-113402200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:113398800-113402400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:113398800-113402400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:113398800-113402400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:113399000-113401800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:113399000-113401800	Enhancers	NH-A	brain
27	chr2:113399000-113402000	Weak transcription	Adipose Nuclei	Adipose
28	chr2:113399000-113402000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:113399000-113402200	Enhancers	HSMMtube	muscle
30	chr2:113399200-113401800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:113399200-113402000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:113399200-113402000	Weak transcription	Fetal Thymus	thymus
33	chr2:113399200-113402000	Enhancers	HSMM	muscle
34	chr2:113399200-113402200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:113399200-113402200	Weak transcription	Right Atrium	heart
36	chr2:113399200-113402200	Enhancers	NHLF	lung
37	chr2:113399200-113402400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:113399200-113402600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:113399200-113402600	Weak transcription	Lung	lung
40	chr2:113399200-113402600	Weak transcription	Pancreas	Pancrea
41	chr2:113399400-113401800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:113399400-113401800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:113399600-113401800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:113399600-113402000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:113400000-113402200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr2:113400000-113402400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:113400200-113402000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:113400200-113402200	Weak transcription	Psoas Muscle	Psoas
49	chr2:113400200-113402200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr2:113400200-113402400	Enhancers	Fetal Intestine Large	intestine

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