Variant report

Variant	rs199674677
Chromosome Location	chr11:64108918-64108919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr11:64108036-64108956	H1-hESC	embryonic stem cell:	n/a	chr11:64108281-64108293 chr11:64108702-64108711 chr11:64108281-64108293 chr11:64108303-64108313 chr11:64108302-64108314 chr11:64108702-64108711 chr11:64108303-64108313 chr11:64108507-64108518 chr11:64108302-64108314 chr11:64108703-64108712 chr11:64108303-64108312 chr11:64108304-64108313
2	ELF1	chr11:64107144-64108941	GM12878	blood:	n/a	chr11:64107675-64107688 chr11:64107677-64107688 chr11:64107862-64107874

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64108902-64108952	HepG2	liver:	n/a
2	chr11:64108902-64108952	Caco-2	colon:	n/a
3	chr11:64108902-64108952	MCF10A-Er-Src	breast:	n/a
4	chr11:64108902-64108952	BJ	skin:	n/a
5	chr11:64108902-64108952	PANC-1	pancreas:	n/a
6	chr11:64108902-64108952	NHBE	bronchial:	n/a
7	chr11:64108902-64108952	SKMC	muscle:	n/a
8	chr11:64108902-64108952	Hela-S3	cervix:	n/a
9	chr11:64108902-64108952	SK-N-SH	brain:	n/a
10	chr11:64108902-64108952	AG09309	skin:	n/a
11	chr11:64108902-64108952	MCF-7	breast:	n/a
12	chr11:64108902-64108952	ECC-1	luminal epithelium:	n/a
13	chr11:64108902-64108952	AoSMC	blood vessel:	n/a
14	chr11:64108902-64108952	HRCEpiC	kidney:	n/a
15	chr11:64108902-64108952	HEK293	kidney:	embryo
16	chr11:64108902-64108952	GM12878	blood:	n/a
17	chr11:64108902-64108952	CMK	blood:	n/a
18	chr11:64108902-64108952	GM19239	blood:	n/a
19	chr11:64108902-64108952	GM12892	blood:	n/a
20	chr11:64108902-64108952	HRE	kidney:	n/a
21	chr11:64108902-64108952	Hepatocyte	liver:	n/a
22	chr11:64108902-64108952	AG04449	skin:	fetal
23	chr11:64108902-64108952	HCT-116	colon:	n/a
24	chr11:64108902-64108952	HCM	heart:	n/a
25	chr11:64108902-64108952	SAEC	small airway:	n/a
26	chr11:64108902-64108952	AG10803	skin:	n/a
27	chr11:64108902-64108952	HCPEpiC	choroid plexus:	n/a
28	chr11:64108902-64108952	GM12891	blood:	n/a
29	chr11:64108902-64108952	SK-N-SH_RA	brain:	n/a
30	chr11:64108902-64108952	ProgFib	skin:	n/a
31	chr11:64108902-64108952	U87	brain:	n/a
32	chr11:64108902-64108952	SK-N-MC	brain:	n/a
33	chr11:64108902-64108952	HUVEC	blood vessel:	n/a
34	chr11:64108902-64108952	HNPCEpiC	eye:	n/a
35	chr11:64108902-64108952	HMEC	breast:	n/a
36	chr11:64108902-64108952	K562	blood:	n/a
37	chr11:64108902-64108952	H1-hESC	embryonic stem cell:	embryo
38	chr11:64108902-64108952	LNCaP	prostate:	n/a
39	chr11:64108902-64108952	NHDF-neo	bronchial:	n/a
40	chr11:64108902-64108952	HL-60	blood:	n/a
41	chr11:64108902-64108952	T-47D	breast:	n/a
42	chr11:64108902-64108952	NT2-D1	testis:	n/a
43	chr11:64108902-64108952	PrEC	prostate:	n/a
44	chr11:64108902-64108952	AG09319	gingival:	n/a
45	chr11:64108902-64108952	HEEpiC	esophagus:	n/a
46	chr11:64108902-64108952	ovcar-3	ovarian:	n/a
47	chr11:64108902-64108952	Jurkat	blood:	n/a
48	chr11:64108902-64108952	RPTEC	kidney:	n/a
49	chr11:64108902-64108952	HAEpiC	amniotic membrane:	n/a
50	chr11:64108902-64108952	HIPEpiC	eye:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64006889..64009385-chr11:64105672..64108941,3	K562	blood:
2	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
3	chr11:64108003..64110489-chr11:64126101..64127976,2	MCF-7	breast:
4	chr11:64008607..64011562-chr11:64108610..64113296,4	MCF-7	breast:
5	chr11:64078839..64083408-chr11:64108257..64111409,4	MCF-7	breast:
6	chr11:63951267..63954594-chr11:64105049..64110612,5	MCF-7	breast:
7	chr11:64083618..64086276-chr11:64108878..64111761,4	K562	blood:
8	chr11:64072715..64075742-chr11:64108562..64111155,5	MCF-7	breast:
9	chr11:64035871..64037932-chr11:64108620..64111379,2	K562	blood:
10	chr11:63972230..63976425-chr11:64106710..64112651,7	K562	blood:
11	chr11:64036423..64038929-chr11:64108620..64112959,5	K562	blood:
12	chr11:64070411..64072227-chr11:64108642..64111595,2	MCF-7	breast:
13	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:
14	chr11:64085064..64087232-chr11:64106469..64111767,5	MCF-7	breast:
15	chr11:64108620..64111741-chr11:64119418..64122798,4	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC88B	TF binding region
CCDC88B	CpG island
ENSG00000173264	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000173511	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000256116	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv555192	chr11:64097233-64111928	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	n/a
18	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
19	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
20	nsv555193	chr11:64107143-64120574	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
21	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	esv3371829	chr11:64108901-64111749	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	19 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64099800-64109600	Weak transcription	Liver	Liver
2	chr11:64100000-64109000	Weak transcription	Pancreas	Pancrea
3	chr11:64103000-64109600	Weak transcription	Right Atrium	heart
4	chr11:64103400-64109600	Weak transcription	NH-A	brain
5	chr11:64103800-64109400	Weak transcription	NHEK	skin
6	chr11:64106800-64109000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr11:64106800-64110400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:64107000-64109000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:64107200-64109400	Active TSS	Rectal Smooth Muscle	rectum
10	chr11:64107200-64110000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:64107400-64109200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:64108000-64109000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:64108000-64109000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:64108000-64109000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:64108000-64109400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:64108000-64109400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:64108000-64109600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:64108000-64110400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:64108000-64110800	Enhancers	Lung	lung
20	chr11:64108200-64109000	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:64108200-64109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:64108200-64109600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:64108200-64109600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr11:64108200-64110200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:64108200-64111200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:64108200-64111800	Enhancers	Placenta	Placenta
27	chr11:64108400-64109000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:64108400-64109200	Enhancers	Small Intestine	intestine
29	chr11:64108400-64109400	Enhancers	Gastric	stomach
30	chr11:64108400-64109400	Weak transcription	Right Ventricle	heart
31	chr11:64108400-64109600	Enhancers	Adipose Nuclei	Adipose
32	chr11:64108400-64109800	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:64108400-64110000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr11:64108400-64110400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:64108600-64109000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr11:64108600-64109000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr11:64108600-64109000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:64108600-64109200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:64108600-64109400	Enhancers	Primary T cells from cord blood	blood
40	chr11:64108600-64109400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:64108600-64109400	Weak transcription	Brain Substantia Nigra	brain
42	chr11:64108600-64109400	Enhancers	Hela-S3	cervix
43	chr11:64108600-64109600	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr11:64108600-64109600	Enhancers	Brain Anterior Caudate	brain
45	chr11:64108600-64109600	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:64108600-64109600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr11:64108600-64109600	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr11:64108600-64109600	Bivalent Enhancer	Fetal Stomach	stomach
49	chr11:64108600-64109600	Enhancers	Stomach Mucosa	stomach
50	chr11:64108600-64109800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood

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