Variant report

Variant	rs571645847
Chromosome Location	chr11:67178538-67178539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67178230-67178711	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:67175796-67179861	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:67178033-67178620	SK-N-MC	brain:	n/a	n/a
4	MTA3	chr11:67175100-67179965	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:67176221-67179699	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:67177165-67178698	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:67178421-67178760	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:67178095-67178571	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:67175692-67179867	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:67176168-67179252	HL-60	blood:	n/a	n/a
11	POLR2A	chr11:67176013-67179736	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:67178432-67178715	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:67178520-67181031	K562	blood:	n/a	n/a
14	POLR2A	chr11:67176293-67178650	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:67176190-67179080	GM12892	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67177350..67179552-chr11:67244883..67247528,2	K562	blood:
2	chr11:67176964..67178797-chr11:67202823..67204626,2	K562	blood:
3	chr11:67177049..67178732-chr17:56707856..56710336,2	MCF-7	breast:
4	chr11:67175789..67179239-chr11:67234277..67236634,3	MCF-7	breast:
5	chr11:67177386..67180366-chr17:57935264..57937336,3	MCF-7	breast:
6	chr11:67175949..67181191-chr11:67230601..67234346,6	K562	blood:
7	chr11:67176577..67178931-chr11:67250966..67253943,2	MCF-7	breast:

No data

Variant related genes	Relation type
CARNS1	TF binding region
PPP1CA	TF binding region
ENSG00000255949	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000172663	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
9	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
10	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers 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	154 gene(s)	inside rSNPs	diseases
12	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
13	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
15	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
16	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' 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	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
22	nsv897812	chr11:67174597-67198887	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
23	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
24	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
25	nsv555255	chr11:67177797-67191449	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67170000-67182800	Weak transcription	Right Atrium	heart
2	chr11:67173800-67181000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr11:67174000-67182200	Enhancers	Brain Hippocampus Middle	brain
4	chr11:67174200-67181200	Enhancers	Brain Cingulate Gyrus	brain
5	chr11:67174400-67179200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:67174400-67181200	Enhancers	Brain Angular Gyrus	brain
7	chr11:67174400-67181400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr11:67175400-67181200	Enhancers	Brain Anterior Caudate	brain
9	chr11:67175800-67178600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:67176400-67182400	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:67176600-67179000	Bivalent Enhancer	Placenta	Placenta
12	chr11:67177000-67179200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:67177000-67179600	Weak transcription	Esophagus	oesophagus
14	chr11:67177000-67181200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr11:67177200-67178800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:67177200-67179000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr11:67177200-67179600	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr11:67177400-67178600	Weak transcription	Gastric	stomach
19	chr11:67177400-67179600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:67177400-67181000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:67177400-67181200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:67177600-67181000	Enhancers	GM12878-XiMat	blood
23	chr11:67177800-67178600	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr11:67177800-67179000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:67177800-67179000	Genic enhancers	Fetal Thymus	thymus
26	chr11:67177800-67182400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:67177800-67182600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr11:67177800-67182600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:67177800-67183400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:67178000-67178600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:67178000-67179200	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr11:67178000-67179400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:67178000-67182400	Enhancers	Primary B cells from peripheral blood	blood
34	chr11:67178000-67182400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:67178000-67182400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:67178000-67182600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr11:67178200-67178600	Enhancers	Primary T cells from cord blood	blood
38	chr11:67178200-67178800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:67178200-67178800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:67178200-67179000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:67178200-67179800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:67178200-67180800	Enhancers	Spleen	Spleen
43	chr11:67178200-67181400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:67178200-67181600	Enhancers	Thymus	Thymus
45	chr11:67178200-67182400	Weak transcription	Lung	lung
46	chr11:67178400-67178600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:67178400-67178800	Bivalent Enhancer	HepG2	liver
48	chr11:67178400-67180000	Weak transcription	Pancreas	Pancrea
49	chr11:67178400-67181200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:67178400-67181200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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