Variant report

Variant	rs34103194
Chromosome Location	chr12:56221464-56221465
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr12:56221014-56221669	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:56220979-56222002	K562	blood:	n/a	n/a
3	POLR2A	chr12:56220982-56221551	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:56220945-56221979	HL-60	blood:	n/a	n/a
5	POLR2A	chr12:56220836-56225418	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr12:56220957-56221599	GM12892	blood:	n/a	n/a
7	USF2	chr12:56221424-56222053	Hela-S3	cervix:	n/a	n/a
8	MTA3	chr12:56220925-56221998	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:56221021-56221886	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr12:56221460-56221610	AoAF	blood vessel:	n/a	n/a
11	POLR2A	chr12:56221158-56221582	MCF10A-Er-Src	breast:	n/a	n/a
12	TBL1XR1	chr12:56221113-56221586	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:56221455-56221784	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:56221019-56221860	MCF-7	breast:	n/a	n/a
15	POU2F2	chr12:56220977-56221648	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:56221085-56222006	K562	blood:	n/a	n/a
17	RUNX3	chr12:56221460-56221844	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:56221351-56221799	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr12:56221419-56221711	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr12:56221047-56224334	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:56221015-56221499	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr12:56220919-56222589	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr12:56220889-56221508	GM12892	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56119665..56125098-chr12:56220794..56225708,11	MCF-7	breast:
2	chr12:56217816..56225905-chr12:56319649..56327312,13	K562	blood:
3	chr12:56221380..56224964-chr12:56389518..56391626,4	MCF-7	breast:
4	chr12:56217992..56226798-chr12:56311494..56331042,68	MCF-7	breast:
5	chr12:56219783..56227072-chr12:56318292..56323886,14	K562	blood:
6	chr12:56221098..56224816-chr12:56434415..56439287,4	MCF-7	breast:
7	chr12:56112120..56114642-chr12:56221264..56223101,2	K562	blood:
8	chr12:56217492..56232243-chr12:56318854..56330686,48	MCF-7	breast:
9	chr12:56220285..56224153-chr12:56233677..56238372,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257390	TF binding region
TMEM198B	TF binding region
ENSG00000170473	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000135437	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000123342	Chromatin interaction
ENSG00000135404	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs74093273	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 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	chr12:56217400-56222400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:56217400-56222400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:56217400-56222600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:56218000-56221600	Weak transcription	Fetal Kidney	kidney
5	chr12:56218000-56222200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:56218000-56222600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:56218200-56222200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:56218200-56222400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:56218200-56222600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:56218200-56222600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:56218400-56222400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:56218400-56222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:56218600-56222400	Enhancers	Adipose Nuclei	Adipose
14	chr12:56218600-56222600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:56218800-56222600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:56219000-56222400	Enhancers	Stomach Mucosa	stomach
17	chr12:56219000-56222600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:56219000-56222800	Enhancers	Fetal Heart	heart
19	chr12:56219400-56222600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:56219600-56221800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:56219600-56222400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:56219600-56222400	Genic enhancers	Fetal Muscle Leg	muscle
23	chr12:56219600-56222400	Enhancers	Spleen	Spleen
24	chr12:56219600-56222600	Genic enhancers	Fetal Stomach	stomach
25	chr12:56219600-56222600	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr12:56219800-56222600	Genic enhancers	Fetal Thymus	thymus
27	chr12:56220000-56222400	Enhancers	Right Atrium	heart
28	chr12:56220000-56222600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:56220000-56222600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:56220000-56222600	Transcr. at gene 5' and 3'	K562	blood
31	chr12:56220000-56225400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:56220200-56222200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:56220200-56222200	Enhancers	Colonic Mucosa	Colon
34	chr12:56220200-56222600	Enhancers	Left Ventricle	heart
35	chr12:56220200-56222800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:56220400-56222000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:56220400-56222200	Genic enhancers	Fetal Brain Female	brain
38	chr12:56220400-56222400	Genic enhancers	Fetal Intestine Small	intestine
39	chr12:56220600-56222600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:56220800-56222000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:56220800-56222200	Enhancers	HUVEC	blood vessel
42	chr12:56221000-56221600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr12:56221000-56221600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:56221000-56221600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr12:56221000-56221600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:56221000-56221600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:56221000-56221600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:56221000-56221600	Enhancers	Colon Smooth Muscle	Colon
49	chr12:56221000-56221600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr12:56221000-56221600	Enhancers	NHDF-Ad	bronchial

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