Variant report

Variant	rs186108653
Chromosome Location	chr2:10091301-10091302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:170)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:170 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:10091270-10091396	ProgFib	skin:	n/a	n/a
2	ZNF143	chr2:10091099-10092064	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:10091018-10092287	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:10091200-10091350	GM12874	blood:	n/a	n/a
5	POLR2A	chr2:10091243-10092350	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:10091215-10092085	H1-neurons	neurons:	n/a	n/a
7	ELF1	chr2:10090670-10091561	GM12878	blood:	n/a	n/a
8	CHD2	chr2:10091060-10091421	K562	blood:	n/a	chr2:10091371-10091381
9	POLR2A	chr2:10091163-10092280	MCF-7	breast:	n/a	n/a
10	CREB1	chr2:10091064-10091386	A549	lung:	n/a	n/a
11	MXI1	chr2:10091156-10091396	GM12878	blood:	n/a	n/a
12	CTCF	chr2:10091261-10091362	K562	blood:	n/a	n/a
13	CTCF	chr2:10091260-10091410	GM12868	blood:	n/a	n/a
14	POLR2A	chr2:10091059-10092346	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:10091170-10092064	K562	blood:	n/a	n/a
16	CTCF	chr2:10091137-10091613	GM12878	blood:	n/a	n/a
17	CTCF	chr2:10091280-10091430	GM12865	blood:	n/a	n/a
18	UBTF	chr2:10091092-10091577	K562	blood:	n/a	n/a
19	RAD21	chr2:10091160-10091590	IMR90	lung:	n/a	n/a
20	CTCF	chr2:10091180-10091330	GM12872	blood:	n/a	n/a
21	NRF1	chr2:10091069-10092077	SK-N-SH	brain:	n/a	chr2:10091615-10091626 chr2:10091508-10091517
22	UBTF	chr2:10091146-10091579	K562	blood:	n/a	n/a
23	CTCF	chr2:10091220-10091370	GM12869	blood:	n/a	n/a
24	SIN3A	chr2:10090873-10091374	H1-hESC	embryonic stem cell:	n/a	n/a
25	EGR1	chr2:10091121-10091857	K562	blood:	n/a	chr2:10091466-10091480
26	CTCF	chr2:10091200-10091350	HepG2	liver:	n/a	n/a
27	CTCF	chr2:10091260-10091410	HBMEC	blood vessel:	n/a	n/a
28	POLR2A	chr2:10091210-10091365	MCF10A-Er-Src	breast:	n/a	n/a
29	CTCF	chr2:10091240-10091390	NHEK	skin:	n/a	n/a
30	CTCF	chr2:10091180-10091330	BJ	skin:	n/a	n/a
31	REST	chr2:10091010-10092234	H1-neurons	neurons:	n/a	chr2:10091109-10091122 chr2:10091112-10091125 chr2:10091135-10091145
32	CTCF	chr2:10091280-10091430	GM12866	blood:	n/a	n/a
33	CTCF	chr2:10091160-10091310	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr2:10091180-10091330	AG09319	gingival:	n/a	n/a
35	MAZ	chr2:10091126-10092096	GM12878	blood:	n/a	n/a
36	HMGN3	chr2:10090855-10092433	K562	blood:	n/a	n/a
37	CTCF	chr2:10091200-10091350	AG04449	skin:	n/a	n/a
38	CTCF	chr2:10091168-10091404	IMR90	lung:	n/a	n/a
39	MAX	chr2:10089602-10092724	HepG2	liver:	n/a	n/a
40	ZEB1	chr2:10091163-10091404	GM12878	blood:	n/a	n/a
41	CHD2	chr2:10091095-10091874	GM12878	blood:	n/a	chr2:10091738-10091748 chr2:10091371-10091381
42	CTCF	chr2:10091231-10091364	SK-N-SH_RA	brain:	n/a	n/a
43	MAX	chr2:10090969-10092273	A549	lung:	n/a	n/a
44	CTCF	chr2:10091232-10091417	MCF-7	breast:	n/a	n/a
45	MAX	chr2:10091149-10091618	K562	blood:	n/a	n/a
46	CTCF	chr2:10091271-10091440	NHEK	skin:	n/a	n/a
47	CTCF	chr2:10091160-10091310	GM12867	blood:	n/a	n/a
48	CTCF	chr2:10091160-10091310	GM12864	blood:	n/a	n/a
49	CTCF	chr2:10091160-10091310	GM12875	blood:	n/a	n/a
50	CTCF	chr2:10091220-10091370	SK-N-SH_RA	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10091270-10091320	PrEC	prostate:	n/a
2	chr2:10091270-10091320	BE2_C	brain:	n/a
3	chr2:10091270-10091320	ECC-1	luminal epithelium:	n/a
4	chr2:10091270-10091320	HUVEC	blood vessel:	n/a
5	chr2:10091270-10091320	HepG2	liver:	n/a
6	chr2:10091270-10091320	SKMC	muscle:	n/a
7	chr2:10091270-10091320	HL-60	blood:	n/a
8	chr2:10091270-10091320	HRE	kidney:	n/a
9	chr2:10091270-10091320	SAEC	small airway:	n/a
10	chr2:10091270-10091320	AG04449	skin:	fetal
11	chr2:10091270-10091320	AG09309	skin:	n/a
12	chr2:10091270-10091320	SK-N-MC	brain:	n/a
13	chr2:10091270-10091320	HCPEpiC	choroid plexus:	n/a
14	chr2:10091270-10091320	HCM	heart:	n/a
15	chr2:10091270-10091320	U87	brain:	n/a
16	chr2:10091270-10091320	Hepatocyte	liver:	n/a
17	chr2:10091270-10091320	HRCEpiC	kidney:	n/a
18	chr2:10091270-10091320	HEEpiC	esophagus:	n/a
19	chr2:10091270-10091320	HRPEpiC	eye:	n/a
20	chr2:10091270-10091320	AG09319	gingival:	n/a
21	chr2:10091270-10091320	ovcar-3	ovarian:	n/a
22	chr2:10091270-10091320	GM12891	blood:	n/a
23	chr2:10091270-10091320	HMEC	breast:	n/a
24	chr2:10091270-10091320	HNPCEpiC	eye:	n/a
25	chr2:10091270-10091320	NHBE	bronchial:	n/a
26	chr2:10091270-10091320	Caco-2	colon:	n/a
27	chr2:10091270-10091320	LNCaP	prostate:	n/a
28	chr2:10091270-10091320	AG10803	skin:	n/a
29	chr2:10091270-10091320	H1-hESC	embryonic stem cell:	embryo
30	chr2:10091270-10091320	AG04450	lung:	fetal
31	chr2:10091270-10091320	NB4	blood:	n/a
32	chr2:10091270-10091320	MCF-7	breast:	n/a
33	chr2:10091270-10091320	GM06990	blood:	n/a
34	chr2:10091270-10091320	HCF	heart:	n/a
35	chr2:10091270-10091320	SK-N-SH_RA	brain:	n/a
36	chr2:10091270-10091320	PFSK-1	brain:	n/a
37	chr2:10091270-10091320	GM19239	blood:	n/a
38	chr2:10091270-10091320	PANC-1	pancreas:	n/a
39	chr2:10091270-10091320	IMR90	lung:	fetal
40	chr2:10091270-10091320	CMK	blood:	n/a
41	chr2:10091270-10091320	BJ	skin:	n/a
42	chr2:10091270-10091320	HEK293	kidney:	embryo
43	chr2:10091270-10091320	AoSMC	blood vessel:	n/a
44	chr2:10091270-10091320	MCF10A-Er-Src	breast:	n/a
45	chr2:10091270-10091320	GM12878	blood:	n/a
46	chr2:10091270-10091320	Jurkat	blood:	n/a
47	chr2:10091270-10091320	NT2-D1	testis:	n/a
48	chr2:10091270-10091320	K562	blood:	n/a
49	chr2:10091270-10091320	GM12892	blood:	n/a
50	chr2:10091270-10091320	SK-N-SH	brain:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9768803..9771575-chr2:10089760..10091656,2	MCF-7	breast:
2	chr2:10090078..10091613-chr2:10169348..10171878,2	K562	blood:
3	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
4	chr2:9770089..9772474-chr2:10090151..10092445,2	K562	blood:
5	chr2:10089749..10091694-chr2:10096424..10099200,2	K562	blood:
6	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
7	chr2:10080626..10083275-chr2:10089838..10091585,2	K562	blood:
8	chr2:10090913..10094433-chr2:10181887..10185131,5	K562	blood:
9	chr2:10090511..10093177-chr2:10182491..10184266,3	MCF-7	breast:
10	chr2:9777094..9779295-chr2:10091033..10093180,2	MCF-7	breast:
11	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
12	chr2:10090081..10091760-chr2:10195035..10197397,2	K562	blood:
13	chr2:10090160..10094173-chr2:10181224..10185885,6	MCF-7	breast:

No data

Variant related genes	Relation type
GRHL1	TF binding region
GRHL1	CpG island
ENSG00000240687	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000172059	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv3409366	chr2:10090126-10092874	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3369173	chr2:10090451-10093249	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3326017	chr2:10090726-10093274	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10090000-10092800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:10090200-10092600	Active TSS	Gastric	stomach
3	chr2:10090400-10091400	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr2:10090400-10093000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:10090600-10091400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:10090600-10091400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:10090600-10092400	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr2:10090600-10092600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:10090600-10092600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:10090600-10092600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:10090600-10092600	Active TSS	Colon Smooth Muscle	Colon
12	chr2:10090600-10092800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:10090600-10092800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:10090600-10092800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:10090600-10092800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr2:10090600-10092800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:10090600-10092800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:10090600-10092800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:10090600-10092800	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:10090800-10091400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:10090800-10091400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
22	chr2:10090800-10091400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr2:10090800-10091400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr2:10090800-10091400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:10090800-10091400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:10090800-10091400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr2:10090800-10091400	Flanking Active TSS	Right Ventricle	heart
28	chr2:10090800-10091400	Flanking Active TSS	GM12878-XiMat	blood
29	chr2:10090800-10092200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:10090800-10092200	Active TSS	HSMM	muscle
31	chr2:10090800-10092200	Active TSS	NH-A	brain
32	chr2:10090800-10092400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:10090800-10092400	Active TSS	Primary T cells from cord blood	blood
34	chr2:10090800-10092400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:10090800-10092400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr2:10090800-10092400	Active TSS	Liver	Liver
37	chr2:10090800-10092400	Active TSS	HSMMtube	muscle
38	chr2:10090800-10092400	Active TSS	NHDF-Ad	bronchial
39	chr2:10090800-10092400	Active TSS	NHEK	skin
40	chr2:10090800-10092600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr2:10090800-10092600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr2:10090800-10092600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:10090800-10092600	Active TSS	Left Ventricle	heart
44	chr2:10090800-10092600	Active TSS	Rectal Smooth Muscle	rectum
45	chr2:10090800-10092600	Active TSS	A549	lung
46	chr2:10090800-10092600	Active TSS	NHLF	lung
47	chr2:10090800-10092800	Active TSS	Brain Angular Gyrus	brain
48	chr2:10090800-10092800	Active TSS	Brain Anterior Caudate	brain
49	chr2:10090800-10092800	Active TSS	Brain Cingulate Gyrus	brain
50	chr2:10090800-10092800	Active TSS	Psoas Muscle	Psoas

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