Variant report

Variant	rs2678936
Chromosome Location	chr2:180872179-180872180
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	TCF12	chr2:180871400-180872294	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr2:180871239-180872349	HEK293	kidney:	n/a	n/a
3	HEY1	chr2:180871469-180872308	HepG2	liver:	n/a	n/a
4	HCFC1	chr2:180871186-180872857	Hela-S3	cervix:	n/a	n/a
5	NFIC	chr2:180871509-180872182	GM12878	blood:	n/a	chr2:180871987-180872003 chr2:180871986-180872003
6	POLR2A	chr2:180871379-180872273	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:180870949-180872253	K562	blood:	n/a	n/a
8	PML	chr2:180871555-180872279	K562	blood:	n/a	n/a
9	POLR2A	chr2:180871331-180872303	Hela-S3	cervix:	n/a	n/a
10	YY1	chr2:180871392-180872237	NT2-D1	testis:	n/a	chr2:180872000-180872010 chr2:180871808-180871817 chr2:180871988-180872010 chr2:180871812-180871822 chr2:180871999-180872007 chr2:180871995-180872011
11	POLR2A	chr2:180871246-180872289	K562	blood:	n/a	n/a
12	JUND	chr2:180871403-180872546	K562	blood:	n/a	n/a
13	YY1	chr2:180871281-180872317	GM12878	blood:	n/a	chr2:180872000-180872010 chr2:180871808-180871817 chr2:180871988-180872010 chr2:180871812-180871822 chr2:180871999-180872007 chr2:180871995-180872011
14	MAX	chr2:180871027-180872269	K562	blood:	n/a	n/a
15	TBP	chr2:180871625-180872217	GM12878	blood:	n/a	n/a
16	YY1	chr2:180871374-180872243	H1-hESC	embryonic stem cell:	n/a	chr2:180872000-180872010 chr2:180871808-180871817 chr2:180871988-180872010 chr2:180871812-180871822 chr2:180871999-180872007 chr2:180871995-180872011
17	TCF7L2	chr2:180871661-180872202	PANC-1	pancreas:	n/a	n/a
18	EP300	chr2:180871693-180872320	GM12878	blood:	n/a	chr2:180871837-180871846
19	PAX5	chr2:180871937-180872228	GM12878	blood:	n/a	n/a
20	TBP	chr2:180871174-180872615	K562	blood:	n/a	n/a
21	CREB1	chr2:180871473-180872411	H1-hESC	embryonic stem cell:	n/a	n/a
22	GABPA	chr2:180871274-180872463	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr2:180871061-180872282	HL-60	blood:	n/a	n/a
24	ELK1	chr2:180871568-180872336	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr2:180871333-180872250	GM12878	blood:	n/a	n/a
26	TAF1	chr2:180871491-180872215	GM12878	blood:	n/a	n/a
27	TEAD4	chr2:180871667-180872344	K562	blood:	n/a	n/a
28	ELF1	chr2:180871549-180872391	HCT-116	colon:	n/a	chr2:180871837-180871848
29	YY1	chr2:180871313-180872220	HepG2	liver:	n/a	chr2:180872000-180872010 chr2:180871808-180871817 chr2:180871988-180872010 chr2:180871812-180871822 chr2:180871999-180872007 chr2:180871995-180872011
30	FOXA1	chr2:180871469-180872225	HepG2	liver:	n/a	n/a
31	TCF7L2	chr2:180871340-180872214	Hela-S3	cervix:	n/a	n/a
32	ETS1	chr2:180871494-180872284	A549	lung:	n/a	chr2:180871837-180871844 chr2:180871833-180871844 chr2:180872119-180872132 chr2:180872118-180872131 chr2:180872031-180872044
33	SPI1	chr2:180871618-180872179	GM12878	blood:	n/a	chr2:180871837-180871846 chr2:180871836-180871849 chr2:180871835-180871848 chr2:180871838-180871845
34	POLR2A	chr2:180871405-180872237	ECC-1	luminal epithelium:	n/a	n/a
35	TCF12	chr2:180871391-180872323	A549	lung:	n/a	n/a
36	POLR2A	chr2:180870803-180872457	NB4	blood:	n/a	n/a
37	CREB1	chr2:180871334-180872446	HepG2	liver:	n/a	n/a
38	WRNIP1	chr2:180871032-180872277	GM12878	blood:	n/a	n/a
39	TAF1	chr2:180871385-180872181	H1-hESC	embryonic stem cell:	n/a	n/a
40	RCOR1	chr2:180871603-180872270	K562	blood:	n/a	n/a
41	FOXA1	chr2:180871932-180872196	T-47D	breast:	n/a	n/a
42	ELK1	chr2:180871619-180872209	K562	blood:	n/a	n/a
43	MYC	chr2:180871949-180872219	HepG2	liver:	n/a	n/a
44	MAZ	chr2:180871644-180872518	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:180871387-180872244	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr2:180871443-180872217	GM18526	blood:	n/a	n/a
47	POLR2A	chr2:180871428-180872219	HepG2	liver:	n/a	n/a
48	TBL1XR1	chr2:180871439-180872263	K562	blood:	n/a	n/a
49	SIX5	chr2:180871804-180872253	K562	blood:	n/a	chr2:180872121-180872130 chr2:180872119-180872128 chr2:180872118-180872132
50	POLR2A	chr2:180871355-180872195	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:180872142-180872192	SK-N-SH	brain:	n/a
2	chr2:180872142-180872192	HIPEpiC	eye:	n/a
3	chr2:180872142-180872192	NHDF-neo	bronchial:	n/a
4	chr2:180872142-180872192	PFSK-1	brain:	n/a
5	chr2:180872142-180872192	ovcar-3	ovarian:	n/a
6	chr2:180872142-180872192	HNPCEpiC	eye:	n/a
7	chr2:180872142-180872192	NB4	blood:	n/a
8	chr2:180872142-180872192	RPTEC	kidney:	n/a
9	chr2:180872142-180872192	IMR90	lung:	fetal
10	chr2:180872142-180872192	MCF-7	breast:	n/a
11	chr2:180872142-180872192	Jurkat	blood:	n/a
12	chr2:180872142-180872192	ProgFib	skin:	n/a
13	chr2:180872142-180872192	BJ	skin:	n/a
14	chr2:180872142-180872192	SK-N-MC	brain:	n/a
15	chr2:180872142-180872192	HRPEpiC	eye:	n/a
16	chr2:180872142-180872192	AG10803	skin:	n/a
17	chr2:180872142-180872192	AoSMC	blood vessel:	n/a
18	chr2:180872142-180872192	Caco-2	colon:	n/a
19	chr2:180872142-180872192	HEEpiC	esophagus:	n/a
20	chr2:180872142-180872192	K562	blood:	n/a
21	chr2:180872142-180872192	GM19239	blood:	n/a
22	chr2:180872142-180872192	HUVEC	blood vessel:	n/a
23	chr2:180872142-180872192	SAEC	small airway:	n/a
24	chr2:180872142-180872192	GM12891	blood:	n/a
25	chr2:180872142-180872192	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:180872142-180872192	CMK	blood:	n/a
27	chr2:180872142-180872192	PrEC	prostate:	n/a
28	chr2:180872142-180872192	HCT-116	colon:	n/a
29	chr2:180872142-180872192	AG09319	gingival:	n/a
30	chr2:180872142-180872192	AG04449	skin:	fetal
31	chr2:180872142-180872192	AG04450	lung:	fetal
32	chr2:180872142-180872192	HAEpiC	amniotic membrane:	n/a
33	chr2:180872142-180872192	GM12892	blood:	n/a
34	chr2:180872142-180872192	HRCEpiC	kidney:	n/a
35	chr2:180872142-180872192	AG09309	skin:	n/a
36	chr2:180872142-180872192	NT2-D1	testis:	n/a
37	chr2:180872142-180872192	GM12878	blood:	n/a
38	chr2:180872142-180872192	GM06990	blood:	n/a
39	chr2:180872142-180872192	PANC-1	pancreas:	n/a
40	chr2:180872142-180872192	HCM	heart:	n/a
41	chr2:180872142-180872192	SK-N-SH_RA	brain:	n/a
42	chr2:180872142-180872192	U87	brain:	n/a
43	chr2:180872142-180872192	H1-hESC	embryonic stem cell:	embryo
44	chr2:180872142-180872192	NHBE	bronchial:	n/a
45	chr2:180872142-180872192	HL-60	blood:	n/a
46	chr2:180872142-180872192	A549	lung:	n/a
47	chr2:180872142-180872192	T-47D	breast:	n/a
48	chr2:180872142-180872192	BE2_C	brain:	n/a
49	chr2:180872142-180872192	HepG2	liver:	n/a
50	chr2:180872142-180872192	NH-A	brain:	n/a

Variant related genes	Relation type
CWC22	TF binding region
CWC22	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12465592	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12468986	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12693214	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12693215	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16867131	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1904850	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2367990	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs259810	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs259811	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3843323	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3845701	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3856415	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56401468	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6433816	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6433818	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6433820	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6433821	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6722147	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6727890	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6733426	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6744281	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759271	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958863	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72960660	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72960664	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72960701	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72962517	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72962575	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs818661	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9288045	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.88[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	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv531444	chr2:180796233-181434590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv834473	chr2:180864256-181030940	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180870000-180872600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:180870400-180872200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:180870600-180872200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:180870600-180872200	Active TSS	Right Ventricle	heart
5	chr2:180870600-180872400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:180870800-180872200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr2:180870800-180872200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:180870800-180872200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:180870800-180872200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:180870800-180872200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:180870800-180872200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:180870800-180872200	Active TSS	Fetal Intestine Large	intestine
13	chr2:180870800-180872200	Active TSS	Fetal Muscle Trunk	muscle
14	chr2:180870800-180872200	Active TSS	Ovary	ovary
15	chr2:180870800-180872200	Active TSS	GM12878-XiMat	blood
16	chr2:180870800-180872200	Active TSS	HMEC	breast
17	chr2:180870800-180872200	Active TSS	NHLF	lung
18	chr2:180870800-180872400	Active TSS	Right Atrium	heart
19	chr2:180870800-180872400	Active TSS	K562	blood
20	chr2:180871000-180872200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr2:180871000-180872200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:180871000-180872200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:180871000-180872200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:180871000-180872200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr2:180871000-180872200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr2:180871000-180872200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:180871000-180872200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:180871000-180872200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:180871000-180872200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:180871000-180872200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:180871000-180872200	Active TSS	Brain Cingulate Gyrus	brain
32	chr2:180871000-180872200	Active TSS	Fetal Intestine Small	intestine
33	chr2:180871000-180872200	Active TSS	Hela-S3	cervix
34	chr2:180871000-180872200	Active TSS	HSMMtube	muscle
35	chr2:180871000-180872200	Active TSS	NHDF-Ad	bronchial
36	chr2:180871000-180872400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:180871000-180872400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr2:180871000-180872400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:180871000-180872400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:180871000-180872400	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr2:180871000-180872400	Active TSS	Aorta	Aorta
42	chr2:180871000-180872400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:180871000-180872400	Active TSS	A549	lung
44	chr2:180871000-180872400	Active TSS	HSMM	muscle
45	chr2:180871200-180872200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:180871200-180872200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr2:180871200-180872200	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr2:180871200-180872200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:180871200-180872200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:180871200-180872200	Active TSS	Muscle Satellite Cultured Cells	--

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