Variant report

Variant	rs2091210
Chromosome Location	chr2:9771200-9771201
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	CBX3	chr2:9770902-9772019	K562	blood:	n/a	n/a
2	MXI1	chr2:9769761-9771632	GM12878	blood:	n/a	chr2:9771395-9771410 chr2:9771393-9771408
3	POLR2A	chr2:9769381-9771687	MCF10A-Er-Src	breast:	n/a	n/a
4	CREB1	chr2:9770162-9771743	A549	lung:	n/a	n/a
5	SIN3AK20	chr2:9770869-9771242	HepG2	liver:	n/a	n/a
6	SP2	chr2:9770976-9771462	K562	blood:	n/a	chr2:9771208-9771223 chr2:9771231-9771241
7	TCF12	chr2:9770887-9771717	A549	lung:	n/a	chr2:9770936-9770943
8	TAF1	chr2:9770108-9771535	H1-hESC	embryonic stem cell:	n/a	n/a
9	EGR1	chr2:9770481-9771746	HCT-116	colon:	n/a	chr2:9771211-9771224 chr2:9771261-9771274 chr2:9771176-9771183
10	RFX5	chr2:9770922-9771783	GM12878	blood:	n/a	chr2:9771393-9771401 chr2:9771395-9771404 chr2:9771394-9771409 chr2:9771231-9771240 chr2:9771392-9771406 chr2:9771394-9771409 chr2:9771391-9771406 chr2:9771394-9771409 chr2:9771393-9771410
11	SIN3A	chr2:9771020-9771573	GM12878	blood:	n/a	chr2:9771267-9771278
12	USF1	chr2:9770907-9771841	A549	lung:	n/a	n/a
13	POLR2A	chr2:9770884-9771228	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:9769301-9771749	IMR90	lung:	n/a	n/a
15	POLR2A	chr2:9770325-9771737	SK-N-SH	brain:	n/a	n/a
16	SP1	chr2:9770038-9771824	A549	lung:	n/a	chr2:9770671-9770680 chr2:9771267-9771276 chr2:9771253-9771267 chr2:9771262-9771276 chr2:9770666-9770680 chr2:9770670-9770679 chr2:9770669-9770681 chr2:9771209-9771218 chr2:9770671-9770680 chr2:9771208-9771220 chr2:9771265-9771277 chr2:9771265-9771276 chr2:9771209-9771223 chr2:9771208-9771220 chr2:9771229-9771250 chr2:9770670-9770680 chr2:9770669-9770681 chr2:9771266-9771275 chr2:9771210-9771219 chr2:9770670-9770680 chr2:9771265-9771277
17	POLR2A	chr2:9770382-9771719	HUVEC	blood vessel:	n/a	n/a
18	MAX	chr2:9770097-9771725	MCF-7	breast:	n/a	chr2:9771395-9771404
19	TAF1	chr2:9770865-9771219	GM12892	blood:	n/a	n/a
20	GTF2F1	chr2:9770955-9771710	Hela-S3	cervix:	n/a	n/a
21	TCF7L2	chr2:9770884-9771701	Hela-S3	cervix:	n/a	chr2:9771105-9771114 chr2:9771104-9771113 chr2:9771102-9771116
22	POLR2A	chr2:9770377-9771640	Gliobla	brain:	n/a	n/a
23	ELF1	chr2:9770919-9771623	A549	lung:	n/a	n/a
24	SP4	chr2:9770890-9771424	H1-hESC	embryonic stem cell:	n/a	chr2:9771208-9771224 chr2:9771261-9771277 chr2:9771265-9771276
25	TBL1XR1	chr2:9770931-9771756	K562	blood:	n/a	n/a
26	HA-E2F1	chr2:9770063-9771759	MCF-7	breast:	n/a	chr2:9770221-9770229 chr2:9771494-9771504 chr2:9770218-9770229 chr2:9770729-9770738 chr2:9770219-9770230 chr2:9770941-9770953 chr2:9770221-9770229 chr2:9771269-9771278 chr2:9771246-9771261 chr2:9770220-9770230
27	YY1	chr2:9770780-9771582	HCT-116	colon:	n/a	chr2:9771078-9771089 chr2:9771336-9771350
28	TCF12	chr2:9770172-9771754	ECC-1	luminal epithelium:	n/a	chr2:9770936-9770943
29	GTF2B	chr2:9770743-9771295	K562	blood:	n/a	n/a
30	POLR2A	chr2:9770103-9771564	GM12878	blood:	n/a	n/a
31	TEAD4	chr2:9770876-9771653	K562	blood:	n/a	n/a
32	GTF2F1	chr2:9770912-9771578	H1-hESC	embryonic stem cell:	n/a	n/a
33	NR3C1	chr2:9770295-9771691	A549	lung:	n/a	chr2:9770613-9770626
34	TAF7	chr2:9770575-9771304	H1-hESC	embryonic stem cell:	n/a	n/a
35	SMC3	chr2:9770978-9771545	K562	blood:	n/a	chr2:9771212-9771222
36	YY1	chr2:9770858-9771522	SK-N-SH_RA	brain:	n/a	chr2:9771078-9771089 chr2:9771336-9771350
37	IRF1	chr2:9770655-9771649	K562	blood:	n/a	chr2:9770669-9770683 chr2:9771206-9771220 chr2:9771265-9771279
38	USF1	chr2:9771112-9771626	SK-N-SH_RA	brain:	n/a	n/a
39	REST	chr2:9770877-9771340	HL-60	blood:	n/a	n/a
40	POLR2A	chr2:9769881-9771641	K562	blood:	n/a	n/a
41	PBX3	chr2:9770967-9771257	GM12878	blood:	n/a	chr2:9771231-9771240
42	NFYA	chr2:9771047-9771504	GM12878	blood:	n/a	chr2:9771228-9771246 chr2:9771228-9771243 chr2:9771230-9771240 chr2:9771228-9771243 chr2:9771228-9771242
43	TAF1	chr2:9770897-9771214	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:9770218-9771604	GM18505	blood:	n/a	n/a
45	JUND	chr2:9770574-9771648	K562	blood:	n/a	chr2:9770674-9770683
46	TBP	chr2:9770937-9771643	GM12878	blood:	n/a	n/a
47	POU2F2	chr2:9770894-9771546	GM12891	blood:	n/a	chr2:9771257-9771269
48	POLR2A	chr2:9769815-9771596	GM12878	blood:	n/a	n/a
49	ZBTB7A	chr2:9770828-9771565	ECC-1	luminal epithelium:	n/a	chr2:9771256-9771265
50	POLR2A	chr2:9769813-9771815	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:9771190-9771240	ProgFib	skin:	n/a
2	chr2:9771190-9771240	AG09319	gingival:	n/a
3	chr2:9771190-9771240	T-47D	breast:	n/a
4	chr2:9771190-9771240	NB4	blood:	n/a
5	chr2:9771190-9771240	Hela-S3	cervix:	n/a
6	chr2:9771190-9771240	GM12891	blood:	n/a
7	chr2:9771190-9771240	HCT-116	colon:	n/a
8	chr2:9771190-9771240	BJ	skin:	n/a
9	chr2:9771190-9771240	A549	lung:	n/a
10	chr2:9771190-9771240	NT2-D1	testis:	n/a
11	chr2:9771190-9771240	AG10803	skin:	n/a
12	chr2:9771190-9771240	HRPEpiC	eye:	n/a
13	chr2:9771190-9771240	ovcar-3	ovarian:	n/a
14	chr2:9771190-9771240	NH-A	brain:	n/a
15	chr2:9771190-9771240	HL-60	blood:	n/a
16	chr2:9771190-9771240	BE2_C	brain:	n/a
17	chr2:9771190-9771240	GM12892	blood:	n/a
18	chr2:9771190-9771240	HCF	heart:	n/a
19	chr2:9771190-9771240	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:9771190-9771240	PrEC	prostate:	n/a
21	chr2:9771190-9771240	ECC-1	luminal epithelium:	n/a
22	chr2:9771190-9771240	H1-hESC	embryonic stem cell:	embryo
23	chr2:9771190-9771240	AoSMC	blood vessel:	n/a
24	chr2:9771190-9771240	SK-N-SH	brain:	n/a
25	chr2:9771190-9771240	Jurkat	blood:	n/a
26	chr2:9771190-9771240	HCPEpiC	choroid plexus:	n/a
27	chr2:9771190-9771240	NHBE	bronchial:	n/a
28	chr2:9771190-9771240	NHDF-neo	bronchial:	n/a
29	chr2:9771190-9771240	MCF10A-Er-Src	breast:	n/a
30	chr2:9771190-9771240	GM06990	blood:	n/a
31	chr2:9771190-9771240	HepG2	liver:	n/a
32	chr2:9771190-9771240	HUVEC	blood vessel:	n/a
33	chr2:9771190-9771240	PFSK-1	brain:	n/a
34	chr2:9771190-9771240	HIPEpiC	eye:	n/a
35	chr2:9771190-9771240	HEK293	kidney:	embryo
36	chr2:9771190-9771240	AG09309	skin:	n/a
37	chr2:9771190-9771240	LNCaP	prostate:	n/a
38	chr2:9771190-9771240	U87	brain:	n/a
39	chr2:9771190-9771240	PANC-1	pancreas:	n/a
40	chr2:9771190-9771240	AG04450	lung:	fetal
41	chr2:9771190-9771240	AG04449	skin:	fetal
42	chr2:9771190-9771240	HAEpiC	amniotic membrane:	n/a
43	chr2:9771190-9771240	HRCEpiC	kidney:	n/a
44	chr2:9771190-9771240	Hepatocyte	liver:	n/a
45	chr2:9771190-9771240	CMK	blood:	n/a
46	chr2:9771190-9771240	GM19239	blood:	n/a
47	chr2:9771190-9771240	K562	blood:	n/a
48	chr2:9771190-9771240	SKMC	muscle:	n/a
49	chr2:9771190-9771240	MCF-7	breast:	n/a
50	chr2:9771190-9771240	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:9770640..9771498-chr3:156893019..156893762,2	Hela-S3	cervix:
2	chr2:9770089..9772474-chr2:10090151..10092445,2	K562	blood:
3	chr2:9693170..9697860-chr2:9768724..9771765,11	MCF-7	breast:
4	chr2:9752399..9758466-chr2:9767981..9772630,10	MCF-7	breast:
5	chr2:9746496..9749378-chr2:9771144..9772887,2	MCF-7	breast:
6	chr17:57917133..57919241-chr2:9769843..9772304,3	MCF-7	breast:
7	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
8	chr2:9769329..9772328-chr2:10259369..10262409,6	K562	blood:
9	chr1:16482093..16482933-chr2:9770651..9771545,2	Hela-S3	cervix:
10	chr15:72523793..72524699-chr2:9770627..9771470,2	Hela-S3	cervix:
11	chr2:9694267..9698929-chr2:9766642..9773016,9	K562	blood:
12	chr2:9695084..9698053-chr2:9768518..9772298,6	MCF-7	breast:
13	chr2:9770804..9771426-chr7:107384082..107384799,2	Hela-S3	cervix:
14	chr2:9769329..9772234-chr2:10259369..10263419,6	K562	blood:
15	chr2:9769809..9772321-chr7:1588274..1590769,2	MCF-7	breast:
16	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:

Variant related genes	Relation type
YWHAQ	TF binding region
YWHAQ	CpG island
ENSG00000271855	Chromatin interaction
ENSG00000240687	Chromatin interaction
ENSG00000241764	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000142627	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000207086	Chromatin interaction
ENSG00000243176	Chromatin interaction
ENSG00000164855	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000199004	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10427360	0.89[ASN][1000 genomes]
rs10495569	0.93[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs12620485	0.87[ASN][1000 genomes]
rs1806668	0.84[ASN][1000 genomes]
rs1976902	0.85[CHB][hapmap]
rs3762535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4145375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4668626	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4669402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4669403	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs56068986	0.87[ASN][1000 genomes]
rs6432026	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6432027	0.92[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs6715748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6732745	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs73913149	0.85[ASN][1000 genomes]
rs73913150	0.86[ASN][1000 genomes]
rs73913152	0.86[ASN][1000 genomes]
rs7567578	0.87[ASN][1000 genomes]
rs884427	1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3404576	chr2:9769526-9772474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9767800-9771800	Active TSS	Pancreas	Pancrea
2	chr2:9768000-9771800	Active TSS	Right Ventricle	heart
3	chr2:9768400-9771400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:9768400-9771800	Active TSS	Aorta	Aorta
5	chr2:9768400-9771800	Active TSS	Left Ventricle	heart
6	chr2:9768400-9771800	Active TSS	Psoas Muscle	Psoas
7	chr2:9768400-9771800	Active TSS	Right Atrium	heart
8	chr2:9768600-9771600	Active TSS	HSMMtube	muscle
9	chr2:9768600-9771800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:9768600-9771800	Active TSS	Colonic Mucosa	Colon
11	chr2:9768600-9771800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:9768600-9771800	Active TSS	Ovary	ovary
13	chr2:9768800-9771600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:9768800-9771600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr2:9768800-9771600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:9768800-9771600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:9768800-9771600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:9768800-9771800	Active TSS	NHLF	lung
19	chr2:9769000-9771400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:9769000-9771400	Active TSS	GM12878-XiMat	blood
21	chr2:9769000-9771400	Active TSS	HSMM	muscle
22	chr2:9769000-9771400	Active TSS	NH-A	brain
23	chr2:9769000-9771600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:9769000-9771600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:9769000-9771600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:9769000-9771600	Active TSS	Brain Anterior Caudate	brain
27	chr2:9769000-9771600	Active TSS	Brain Cingulate Gyrus	brain
28	chr2:9769000-9771600	Active TSS	Brain Hippocampus Middle	brain
29	chr2:9769000-9771600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr2:9769000-9771600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:9769000-9771600	Active TSS	Brain Substantia Nigra	brain
32	chr2:9769000-9771600	Active TSS	Fetal Intestine Large	intestine
33	chr2:9769000-9771800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:9769000-9772000	Active TSS	Fetal Brain Female	brain
35	chr2:9769000-9772600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr2:9769200-9771400	Active TSS	Hela-S3	cervix
37	chr2:9769200-9771600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr2:9769200-9771600	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr2:9769200-9771600	Active TSS	Rectal Smooth Muscle	rectum
40	chr2:9769400-9771400	Active TSS	NHEK	skin
41	chr2:9769400-9771600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:9769400-9771600	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr2:9769400-9771600	Active TSS	Lung	lung
44	chr2:9769400-9771800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:9769400-9771800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:9769400-9771800	Active TSS	Brain Angular Gyrus	brain
47	chr2:9769400-9771800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr2:9769400-9772600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr2:9769600-9771400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr2:9769600-9771400	Bivalent/Poised TSS	HepG2	liver

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