Variant report

Variant	rs547700645
Chromosome Location	chr11:63684013-63684014
allele	A/C
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	MAX	chr11:63683729-63684952	A549	lung:	n/a	n/a
2	CTCF	chr11:63683917-63684126	MCF-7	breast:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
3	POLR2A	chr11:63683697-63684279	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr11:63683987-63684147	NB4	blood:	n/a	n/a
5	RAD21	chr11:63682620-63684442	SK-N-SH	brain:	n/a	chr11:63682798-63682808 chr11:63684308-63684321 chr11:63684016-63684035 chr11:63682798-63682810 chr11:63683940-63683953 chr11:63682796-63682809 chr11:63683756-63683766
6	CTCF	chr11:63683880-63684164	MCF-7	breast:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
7	POLR2A	chr11:63683879-63686201	K562	blood:	n/a	n/a
8	POLR2A	chr11:63683987-63684202	A549	lung:	n/a	n/a
9	MYC	chr11:63683957-63684157	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr11:63683816-63684152	K562	blood:	n/a	chr11:63684016-63684035 chr11:63683940-63683953
11	CTCF	chr11:63683930-63684128	Hela-S3	cervix:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
12	CTCF	chr11:63683960-63684110	BE2_C	brain:	n/a	chr11:63684015-63684033
13	CTCF	chr11:63683960-63684110	GM06990	blood:	n/a	chr11:63684015-63684033
14	CTCF	chr11:63683960-63684110	GM12865	blood:	n/a	chr11:63684015-63684033
15	SMARCB1	chr11:63683963-63686387	Hela-S3	cervix:	n/a	n/a
16	YY1	chr11:63683709-63684199	K562	blood:	n/a	chr11:63683751-63683762
17	MAX	chr11:63683975-63684175	HepG2	liver:	n/a	n/a
18	CTCF	chr11:63683875-63684193	GM19238	blood:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
19	ZNF143	chr11:63683989-63684076	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:63683960-63684110	GM12871	blood:	n/a	chr11:63684015-63684033
21	HCFC1	chr11:63683981-63684105	K562	blood:	n/a	n/a
22	CTCF	chr11:63683940-63684090	HEK293	kidney:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
23	ZBTB7A	chr11:63683896-63684214	HepG2	liver:	n/a	n/a
24	CTCF	chr11:63683737-63684224	K562	blood:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
25	CTCF	chr11:63683960-63684110	GM12866	blood:	n/a	chr11:63684015-63684033
26	MYC	chr11:63683850-63684251	K562	blood:	n/a	n/a
27	TBP	chr11:63683972-63684168	K562	blood:	n/a	n/a
28	CTCF	chr11:63683980-63684130	GM12864	blood:	n/a	chr11:63684015-63684033
29	CTCF	chr11:63683900-63684050	GM12872	blood:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
30	HMGN3	chr11:63683793-63684679	K562	blood:	n/a	n/a
31	CTCF	chr11:63683906-63684160	Fibrobl	skin:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
32	ZBTB7A	chr11:63683640-63684455	K562	blood:	n/a	chr11:63684246-63684254
33	CTCF	chr11:63683960-63684110	AoAF	blood vessel:	n/a	chr11:63684015-63684033
34	ZBTB7A	chr11:63683856-63684382	HepG2	liver:	n/a	chr11:63684246-63684254
35	CHD2	chr11:63683912-63684176	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr11:63683765-63684313	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr11:63683756-63684246	H1-hESC	embryonic stem cell:	n/a	chr11:63684016-63684035 chr11:63683940-63683953 chr11:63683756-63683766
38	GABPA	chr11:63683836-63684205	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr11:63683988-63684039	K562	blood:	n/a	n/a
40	CTCF	chr11:63683940-63684090	GM12868	blood:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
41	MAX	chr11:63683897-63684114	K562	blood:	n/a	n/a
42	CTCF	chr11:63684000-63684150	HRPEpiC	eye:	n/a	chr11:63684015-63684033
43	CTCF	chr11:63683920-63684070	HPAF	blood vessel:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
44	CTCF	chr11:63683940-63684090	GM12867	blood:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
45	POLR2A	chr11:63683931-63684171	K562	blood:	n/a	n/a
46	HDAC2	chr11:63683872-63684063	K562	blood:	n/a	n/a
47	YY1	chr11:63683410-63684450	HepG2	liver:	n/a	chr11:63684190-63684201 chr11:63684423-63684437 chr11:63683751-63683762
48	POLR2A	chr11:63683377-63684284	H1-neurons	neurons:	n/a	n/a
49	CTCF	chr11:63683940-63684090	NB4	blood:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
50	CTCF	chr11:63683934-63684102	GM20000	blood:	n/a	chr11:63683943-63683956 chr11:63684015-63684033

No.	Distal block	Cell Line	Cell type
1	chr11:63683405..63684071-chr11:63712749..63713693,2	MCF-7	breast:
2	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
3	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
4	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:
5	chr11:63683781..63686730-chr11:63932079..63933586,2	K562	blood:
6	chr11:63682847..63685544-chr11:63752668..63755278,2	MCF-7	breast:
7	chr11:63535779..63536323-chr11:63683262..63684232,2	MCF-7	breast:
8	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
9	chr11:63605631..63608231-chr11:63683000..63685015,3	MCF-7	breast:
10	chr11:63683951..63686895-chr11:63953660..63955644,2	MCF-7	breast:
11	chr11:63682437..63684177-chr8:101963345..101965664,2	MCF-7	breast:
12	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
13	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:
14	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
15	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
16	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
17	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
18	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
19	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:
20	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000255651	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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 target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
4	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	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
9	nsv897632	chr11:63670787-63688693	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897635	chr11:63674926-63688693	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv897636	chr11:63676067-63688693	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv897637	chr11:63676067-63691049	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv897638	chr11:63676562-63688693	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
16	esv3378640	chr11:63683601-63686149	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
17	esv3426165	chr11:63683826-63685724	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63682600-63684200	Enhancers	Lung	lung
2	chr11:63682600-63684200	Bivalent Enhancer	Stomach Mucosa	stomach
3	chr11:63682600-63685800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:63682600-63688800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:63682800-63684400	Bivalent Enhancer	Spleen	Spleen
6	chr11:63682800-63685000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:63682800-63685200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:63682800-63685200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:63682800-63685800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:63682800-63687400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:63683000-63685000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:63683000-63685000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:63683000-63685600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:63683000-63685800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:63683000-63686000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:63683000-63686000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:63683000-63686000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:63683000-63687200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:63683200-63684200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr11:63683200-63684200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:63683200-63684200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:63683200-63684200	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr11:63683200-63684200	Flanking Active TSS	Fetal Lung	lung
24	chr11:63683200-63684200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr11:63683200-63684400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:63683200-63684400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:63683200-63684400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:63683200-63684400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:63683200-63684400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:63683200-63684400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr11:63683200-63688800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:63683400-63684200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:63683400-63684200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr11:63683400-63684200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr11:63683400-63684200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:63683400-63684200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:63683400-63684200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:63683400-63684200	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr11:63683400-63684200	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr11:63683400-63684200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr11:63683400-63684200	Bivalent/Poised TSS	Osteobl	bone
42	chr11:63683400-63684400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr11:63683400-63684400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:63683400-63684400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr11:63683400-63684400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:63683400-63684400	Active TSS	Brain Angular Gyrus	brain
47	chr11:63683400-63684400	Active TSS	Fetal Kidney	kidney
48	chr11:63683400-63684400	Flanking Active TSS	Fetal Thymus	thymus
49	chr11:63683400-63684400	Flanking Active TSS	Pancreas	Pancrea
50	chr11:63683400-63684400	Flanking Active TSS	Right Ventricle	heart

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