Variant report

Variant	rs113491892
Chromosome Location	chr12:22199053-22199054
allele	C/T
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	chr12:22198936-22199466	HCT-116	colon:	n/a	n/a
2	RUNX3	chr12:22199012-22199339	GM12878	blood:	n/a	n/a
3	RFX5	chr12:22199051-22199368	Hela-S3	cervix:	n/a	n/a
4	IRF1	chr12:22198888-22199371	K562	blood:	n/a	n/a
5	EGR1	chr12:22198922-22199704	ECC-1	luminal epithelium:	n/a	chr12:22199222-22199236 chr12:22199509-22199522 chr12:22199259-22199273 chr12:22198975-22198984 chr12:22199223-22199234 chr12:22199076-22199100 chr12:22199223-22199234
6	POLR2A	chr12:22198923-22199911	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:22198990-22199945	GM12878	blood:	n/a	n/a
8	REST	chr12:22198777-22200230	H1-neurons	neurons:	n/a	chr12:22199677-22199685 chr12:22199719-22199728 chr12:22199708-22199728 chr12:22199708-22199728
9	SIX5	chr12:22198919-22199271	GM12878	blood:	n/a	chr12:22199079-22199088 chr12:22199077-22199086
10	CREB1	chr12:22198906-22199741	A549	lung:	n/a	n/a
11	CTCF	chr12:22199020-22199170	AG04449	skin:	n/a	n/a
12	ELF1	chr12:22198949-22199320	HepG2	liver:	n/a	n/a
13	HA-E2F1	chr12:22198860-22199499	MCF-7	breast:	n/a	n/a
14	POLR2A	chr12:22198994-22199983	GM18951	blood:	n/a	n/a
15	REST	chr12:22199049-22199919	U87	brain:	n/a	chr12:22199677-22199685 chr12:22199719-22199728 chr12:22199708-22199728 chr12:22199708-22199728
16	HCFC1	chr12:22198845-22200144	K562	blood:	n/a	n/a
17	YY1	chr12:22198953-22199888	K562	blood:	n/a	chr12:22199517-22199526 chr12:22199517-22199531 chr12:22199164-22199173
18	EGR1	chr12:22198974-22199599	GM12878	blood:	n/a	chr12:22199222-22199236 chr12:22199509-22199522 chr12:22199259-22199273 chr12:22198975-22198984 chr12:22199223-22199234 chr12:22199076-22199100 chr12:22199223-22199234
19	POLR2A	chr12:22198972-22199914	MCF-7	breast:	n/a	n/a
20	MAZ	chr12:22198914-22200053	K562	blood:	n/a	chr12:22199528-22199538
21	MAZ	chr12:22198922-22200009	Hela-S3	cervix:	n/a	chr12:22199528-22199538
22	TAF1	chr12:22199017-22199267	PFSK-1	brain:	n/a	n/a
23	SIX5	chr12:22198880-22199282	GM12878	blood:	n/a	chr12:22199079-22199088 chr12:22199077-22199086
24	ETS1	chr12:22198936-22199437	A549	lung:	n/a	chr12:22198976-22198983 chr12:22199075-22199088 chr12:22199076-22199089
25	ZNF143	chr12:22198862-22199387	Hela-S3	cervix:	n/a	chr12:22199077-22199095 chr12:22199077-22199086 chr12:22199079-22199088 chr12:22198874-22198883
26	TAF1	chr12:22198940-22199522	K562	blood:	n/a	n/a
27	MAX	chr12:22198920-22199648	ECC-1	luminal epithelium:	n/a	chr12:22199528-22199538
28	NFIC	chr12:22198971-22199931	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr12:22198997-22201211	K562	blood:	n/a	n/a
30	CREB1	chr12:22198913-22199866	HepG2	liver:	n/a	n/a
31	POLR2A	chr12:22199053-22200087	GM12878	blood:	n/a	n/a
32	RAD21	chr12:22199050-22199090	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:22198915-22200206	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr12:22199004-22200246	MCF10A-Er-Src	breast:	n/a	n/a
35	TAF1	chr12:22199047-22199333	Hela-S3	cervix:	n/a	n/a
36	FOXA1	chr12:22199051-22199252	T-47D	breast:	n/a	n/a
37	CHD1	chr12:22199016-22199576	GM12878	blood:	n/a	n/a
38	ZNF143	chr12:22198891-22199772	H1-hESC	embryonic stem cell:	n/a	chr12:22199077-22199095 chr12:22199077-22199086 chr12:22199079-22199088 chr12:22199534-22199552
39	TAF1	chr12:22199015-22199348	HepG2	liver:	n/a	n/a
40	POLR2A	chr12:22199038-22202279	K562	blood:	n/a	n/a
41	CHD2	chr12:22198970-22199953	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:22199002-22200003	GM19193	blood:	n/a	n/a
43	HCFC1	chr12:22198629-22200500	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:22199043-22200183	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr12:22199006-22199973	GM19099	blood:	n/a	n/a
46	SP4	chr12:22198986-22199501	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr12:22198908-22199325	HCT-116	colon:	n/a	chr12:22199164-22199173
48	TAF1	chr12:22198978-22199479	H1-hESC	embryonic stem cell:	n/a	n/a
49	EGR1	chr12:22198791-22199889	HCT-116	colon:	n/a	chr12:22199222-22199236 chr12:22199509-22199522 chr12:22199259-22199273 chr12:22198975-22198984 chr12:22199223-22199234 chr12:22199076-22199100 chr12:22199223-22199234
50	POLR2A	chr12:22198934-22199911	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:21809057..21812387-chr12:22198017..22201408,5	K562	blood:
2	chr12:22197898..22202531-chr12:22202616..22208309,9	MCF-7	breast:
3	chr12:22198915..22199528-chr19:49149371..49150045,2	HCT-116	colon:
4	chr12:21653863..21655490-chr12:22198033..22200548,2	MCF-7	breast:
5	chr12:22198711..22199449-chr3:101404905..101405783,2	HCT-116	colon:

Variant related genes	Relation type
CMAS	TF binding region
ENSG00000111726	Chromatin interaction
ENSG00000063180	Chromatin interaction
ENSG00000111711	Chromatin interaction
ENSG00000004700	Chromatin interaction
ENSG00000111716	Chromatin interaction
ENSG00000114391	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1850259	chr12:22198865-22244741	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22188200-22199200	Weak transcription	Aorta	Aorta
2	chr12:22192800-22199200	Weak transcription	Placenta	Placenta
3	chr12:22196400-22199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:22196400-22199200	Weak transcription	HMEC	breast
5	chr12:22196400-22199200	Weak transcription	NH-A	brain
6	chr12:22196600-22199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:22197400-22199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:22197800-22199200	Weak transcription	Stomach Mucosa	stomach
9	chr12:22198400-22200600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr12:22198600-22199200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:22198600-22199200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:22198600-22199200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:22198600-22199200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:22198600-22199200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:22198600-22199200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:22198600-22199200	Weak transcription	Small Intestine	intestine
17	chr12:22198600-22199200	Weak transcription	K562	blood
18	chr12:22198600-22199800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:22198600-22200800	Active TSS	Stomach Smooth Muscle	stomach
20	chr12:22198800-22199600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:22198800-22199600	Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr12:22198800-22199600	Active TSS	Primary T cells fromperipheralblood	blood
23	chr12:22198800-22199600	Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr12:22198800-22199600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr12:22198800-22199800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:22198800-22199800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:22198800-22199800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:22198800-22199800	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr12:22198800-22199800	Active TSS	Rectal Smooth Muscle	rectum
30	chr12:22198800-22199800	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr12:22198800-22200000	Active TSS	Primary T cells from cord blood	blood
32	chr12:22198800-22200000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:22198800-22200000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:22198800-22200000	Active TSS	Fetal Brain Female	brain
35	chr12:22198800-22200000	Active TSS	Fetal Stomach	stomach
36	chr12:22198800-22200200	Active TSS	Thymus	Thymus
37	chr12:22198800-22200400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:22198800-22200800	Active TSS	Fetal Muscle Leg	muscle
39	chr12:22199000-22199200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:22199000-22199200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:22199000-22199200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:22199000-22199200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:22199000-22199200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:22199000-22199200	Active TSS	Brain Germinal Matrix	brain
45	chr12:22199000-22199400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:22199000-22199400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr12:22199000-22199600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:22199000-22199600	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:22199000-22199800	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr12:22199000-22199800	Active TSS	Primary B cells from cord blood	blood

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