Variant report

Variant	rs575659389
Chromosome Location	chr12:104234165-104234166
allele	G/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	CEBPD	chr12:104234003-104234441	K562	blood:	n/a	n/a
2	REST	chr12:104234039-104235378	H1-neurons	neurons:	n/a	chr12:104235302-104235315 chr12:104235366-104235375 chr12:104235191-104235204
3	POLR2A	chr12:104233898-104234177	HepG2	liver:	n/a	n/a
4	MXI1	chr12:104233534-104236201	SK-N-SH	brain:	n/a	n/a
5	SIN3AK20	chr12:104233874-104236425	MCF-7	breast:	n/a	n/a
6	GATA3	chr12:104233966-104234340	T-47D	breast:	n/a	n/a
7	MXI1	chr12:104233369-104236110	IMR90	lung:	n/a	n/a
8	POLR2A	chr12:104234139-104235191	IMR90	lung:	n/a	n/a
9	NFIC	chr12:104234128-104234582	GM12878	blood:	n/a	n/a
10	EGR1	chr12:104234021-104236169	HCT-116	colon:	n/a	chr12:104235534-104235549 chr12:104234375-104234389 chr12:104234376-104234387 chr12:104235113-104235127 chr12:104234376-104234387 chr12:104235150-104235164 chr12:104235536-104235547 chr12:104235230-104235239 chr12:104234371-104234393 chr12:104235720-104235734 chr12:104235133-104235147 chr12:104234377-104234387 chr12:104234375-104234388 chr12:104234376-104234390 chr12:104235085-104235099 chr12:104235227-104235240 chr12:104235227-104235240 chr12:104234377-104234387
11	MAZ	chr12:104234025-104236471	IMR90	lung:	n/a	chr12:104235191-104235200 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
12	EBF1	chr12:104234127-104235216	GM12878	blood:	n/a	chr12:104234395-104234404 chr12:104234393-104234404 chr12:104234395-104234404 chr12:104234395-104234405
13	MAX	chr12:104234092-104236104	HCT-116	colon:	n/a	chr12:104235191-104235200 chr12:104235040-104235050 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
14	POLR2A	chr12:104233750-104236063	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104192525..104200371-chr12:104233987..104238967,10	MCF-7	breast:
2	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
3	chr12:104186150..104188258-chr12:104233575..104235121,2	K562	blood:
4	chr12:104211319..104217420-chr12:104233507..104236073,8	MCF-7	breast:
5	chr12:104219162..104221997-chr12:104232338..104234895,2	K562	blood:
6	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
7	chr12:104233429..104235958-chr12:104358438..104361946,3	MCF-7	breast:
8	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
9	chr12:104186877..104189949-chr12:104233437..104236104,3	MCF-7	breast:
10	chr12:104233800..104236223-chr12:104679514..104682489,2	K562	blood:
11	chr12:104208263..104213427-chr12:104233273..104236383,5	K562	blood:
12	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
13	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
14	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:

Variant related genes	Relation type
ENSG00000257327	TF binding region
ENSG00000111696	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000257754	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000204954	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3372343	chr12:104234047-104236595	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	n/a
4	nsv44491	chr12:104234166-104234170	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	n/a	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104231800-104235400	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:104231800-104236000	Active TSS	Rectal Smooth Muscle	rectum
3	chr12:104232000-104236000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:104232200-104235600	Active TSS	Aorta	Aorta
5	chr12:104232400-104235800	Active TSS	Colon Smooth Muscle	Colon
6	chr12:104232600-104234200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr12:104232600-104234200	Flanking Active TSS	Liver	Liver
8	chr12:104232800-104234200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:104232800-104234200	Flanking Active TSS	NH-A	brain
10	chr12:104232800-104234400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:104232800-104235400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:104233000-104234200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:104233000-104234200	Enhancers	Gastric	stomach
14	chr12:104233000-104235800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:104233000-104236000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:104233200-104234200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:104233200-104234200	Active TSS	Right Atrium	heart
18	chr12:104233400-104234200	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:104233400-104234200	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:104233400-104234200	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:104233400-104234200	Flanking Active TSS	HSMM	muscle
22	chr12:104233400-104234200	Flanking Active TSS	Osteobl	bone
23	chr12:104233400-104234400	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr12:104233400-104234600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:104233400-104235400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr12:104233400-104236000	Active TSS	Fetal Brain Female	brain
27	chr12:104233600-104234200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr12:104233600-104234200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr12:104233600-104234200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:104233600-104234200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:104233600-104234200	Enhancers	Primary T cells from cord blood	blood
32	chr12:104233600-104234200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr12:104233600-104234200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:104233600-104234200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:104233600-104234200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr12:104233600-104234200	Active TSS	Brain Germinal Matrix	brain
37	chr12:104233600-104234200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr12:104233600-104234200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr12:104233600-104234200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr12:104233600-104234200	Flanking Active TSS	K562	blood
41	chr12:104233600-104234400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:104233600-104234400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:104233600-104234400	Enhancers	Small Intestine	intestine
44	chr12:104233600-104234400	Enhancers	Stomach Mucosa	stomach
45	chr12:104233600-104234600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:104233600-104234600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:104233600-104234800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr12:104233600-104235600	Active TSS	HSMMtube	muscle
49	chr12:104233600-104235800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:104233600-104236000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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