Variant report

Variant	rs369034703
Chromosome Location	chr11:65837381-65837382
allele	A/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	POLR2A	chr11:65836889-65838227	ProgFib	skin:	n/a	n/a
2	SP1	chr11:65837365-65837916	GM12878	blood:	n/a	chr11:65837734-65837744 chr11:65837544-65837558 chr11:65837407-65837419 chr11:65837408-65837418 chr11:65837734-65837744
3	RUNX3	chr11:65836229-65837957	GM12878	blood:	n/a	n/a
4	MAX	chr11:65836371-65838975	A549	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
5	ZBTB7A	chr11:65837200-65838621	K562	blood:	n/a	n/a
6	POLR2A	chr11:65837107-65838167	HUVEC	blood vessel:	n/a	n/a
7	TCF3	chr11:65837218-65838024	GM12878	blood:	n/a	n/a
8	HEY1	chr11:65837333-65838021	K562	blood:	n/a	chr11:65837450-65837465
9	ETS1	chr11:65837134-65838343	K562	blood:	n/a	chr11:65837233-65837246
10	POLR2A	chr11:65836330-65837671	GM12878	blood:	n/a	n/a
11	MAX	chr11:65837369-65837939	GM12878	blood:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
12	STAT5A	chr11:65835763-65837684	GM12878	blood:	n/a	n/a
13	MAX	chr11:65837319-65837923	HepG2	liver:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
14	CTCF	chr11:65837300-65837450	HUVEC	blood vessel:	n/a	n/a
15	NFATC1	chr11:65836618-65837780	GM12878	blood:	n/a	n/a
16	CTCF	chr11:65837340-65837490	Caco-2	colon:	n/a	n/a
17	CTCF	chr11:65837300-65837450	GM12873	blood:	n/a	n/a
18	CTCF	chr11:65837380-65837530	AG04449	skin:	n/a	n/a
19	CCNT2	chr11:65837208-65838564	K562	blood:	n/a	n/a
20	ZBTB7A	chr11:65837106-65837673	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr11:65837187-65838778	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:65836892-65837564	HepG2	liver:	n/a	n/a
23	MAX	chr11:65837349-65838032	SK-N-SH	brain:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
24	CTCF	chr11:65837300-65837450	GM12874	blood:	n/a	n/a
25	PBX3	chr11:65836815-65837949	SK-N-SH	brain:	n/a	n/a
26	CTCF	chr11:65837340-65837490	GM12878	blood:	n/a	n/a
27	NFIC	chr11:65837376-65838544	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr11:65837284-65837987	GM10847	blood:	n/a	n/a
29	POLR2A	chr11:65836624-65837689	U87	brain:	n/a	n/a
30	JUND	chr11:65837169-65838077	A549	lung:	n/a	n/a
31	MAX	chr11:65836771-65838506	HepG2	liver:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
32	EGR1	chr11:65837319-65837840	ECC-1	luminal epithelium:	n/a	chr11:65837815-65837824 chr11:65837814-65837823 chr11:65837549-65837562 chr11:65837717-65837731 chr11:65837549-65837562
33	PBX3	chr11:65837312-65837801	A549	lung:	n/a	n/a
34	HMGN3	chr11:65837263-65838575	K562	blood:	n/a	n/a
35	FOSL2	chr11:65837075-65837672	HepG2	liver:	n/a	n/a
36	TCF12	chr11:65837057-65838143	ECC-1	luminal epithelium:	n/a	n/a
37	CHD2	chr11:65837356-65837913	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:65837320-65837668	GM12891	blood:	n/a	n/a
39	POLR2A	chr11:65837206-65838200	A549	lung:	n/a	n/a
40	ELF1	chr11:65837199-65837668	HepG2	liver:	n/a	chr11:65837339-65837351
41	TCF7L2	chr11:65836981-65837464	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr11:65836928-65838009	GM15510	blood:	n/a	n/a
43	TAF1	chr11:65837294-65838100	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr11:65836338-65838105	GM12891	blood:	n/a	n/a
45	MAZ	chr11:65836170-65839866	IMR90	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
46	POLR2A	chr11:65836351-65837681	K562	blood:	n/a	n/a
47	POLR2A	chr11:65836498-65837980	GM12891	blood:	n/a	n/a
48	SIN3A	chr11:65836824-65838298	H1-hESC	embryonic stem cell:	n/a	n/a
49	RELA	chr11:65836431-65837831	GM12891	blood:	n/a	n/a
50	HDAC2	chr11:65837098-65838011	MCF-7	breast:	n/a	chr11:65837813-65837822

No.	Distal block	Cell Line	Cell type
1	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
2	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
3	chr11:65656719..65659047-chr11:65835301..65837715,2	MCF-7	breast:
4	chr11:65665582..65668888-chr11:65835107..65838015,3	K562	blood:
5	chr11:65836209..65839625-chr11:66023244..66027607,5	K562	blood:
6	chr11:65836630..65840121-chr11:66032259..66035828,5	MCF-7	breast:
7	chr11:65779081..65782393-chr11:65836476..65839425,3	MCF-7	breast:
8	chr11:65837353..65839732-chr11:66024702..66027312,4	MCF-7	breast:
9	chr11:65835858..65838956-chr11:66027814..66030508,4	MCF-7	breast:
10	chr11:65836782..65838328-chr20:49347114..49348947,2	MCF-7	breast:
11	chr11:65836209..65839676-chr11:66023244..66028603,5	K562	blood:
12	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
13	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:
14	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
15	chr11:65625072..65626937-chr11:65835477..65837832,2	K562	blood:
16	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:

Variant related genes	Relation type
PACS1	TF binding region
ENSG00000255038	TF binding region
ENSG00000238752	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000254461	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000254855	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
3	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3321690	chr11:65835376-65839974	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
7	esv3377128	chr11:65836776-65839324	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
8	esv3340048	chr11:65837001-65839549	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 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	chr11:65828200-65838000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65836000-65837400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:65836200-65837400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr11:65836200-65837600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
5	chr11:65836400-65837400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:65836400-65837600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:65836600-65837400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:65836600-65837400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:65836600-65837400	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr11:65836600-65837400	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr11:65836600-65837400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr11:65836600-65837400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr11:65836600-65837400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:65836600-65837600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:65836600-65837600	Flanking Active TSS	Colonic Mucosa	Colon
16	chr11:65836800-65837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:65836800-65837400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr11:65836800-65837400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr11:65836800-65837400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr11:65836800-65837400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr11:65836800-65837400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:65836800-65837400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr11:65836800-65837400	Flanking Active TSS	Liver	Liver
24	chr11:65836800-65837400	Flanking Active TSS	Psoas Muscle	Psoas
25	chr11:65836800-65837400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr11:65836800-65837400	Flanking Active TSS	HepG2	liver
27	chr11:65836800-65837400	Flanking Active TSS	NH-A	brain
28	chr11:65836800-65837400	Transcr. at gene 5' and 3'	NHLF	lung
29	chr11:65836800-65837600	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr11:65836800-65837600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:65836800-65839000	Active TSS	Primary T cells from cord blood	blood
32	chr11:65836800-65839600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:65837000-65837400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:65837000-65837400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:65837000-65837400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:65837000-65837400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:65837000-65837400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:65837000-65837400	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr11:65837000-65837400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr11:65837000-65837400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:65837000-65837400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr11:65837000-65837400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr11:65837000-65837400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr11:65837000-65837400	Flanking Active TSS	Placenta	Placenta
45	chr11:65837000-65837400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
46	chr11:65837000-65837400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
47	chr11:65837000-65837400	Flanking Active TSS	HUVEC	blood vessel
48	chr11:65837000-65837400	Flanking Active TSS	K562	blood
49	chr11:65837000-65837400	Flanking Active TSS	Osteobl	bone
50	chr11:65837000-65837600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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