Variant report

Variant	rs1868208
Chromosome Location	chr12:32115002-32115003
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	ESR1	chr12:32114841-32115310	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr12:32114787-32115214	ECC-1	luminal epithelium:	n/a	n/a
3	ZNF384	chr12:32114986-32115371	K562	blood:	n/a	n/a
4	POLR2A	chr12:32114098-32115031	GM12892	blood:	n/a	n/a
5	POLR2A	chr12:32113655-32115761	K562	blood:	n/a	n/a
6	ESR1	chr12:32114788-32115239	ECC-1	luminal epithelium:	n/a	n/a
7	ESR1	chr12:32114845-32115288	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31868001..31870341-chr12:32112733..32115276,2	K562	blood:

Variant related genes	Relation type
KIAA1551	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10771891	0.84[ASN][1000 genomes]
rs10844073	0.85[ASN][1000 genomes]
rs4931593	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7955585	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv1040680	chr12:32079034-32124694	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32111200-32116000	Active TSS	Ovary	ovary
2	chr12:32111800-32115800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:32113000-32115600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr12:32113400-32118600	Weak transcription	Pancreas	Pancrea
5	chr12:32113400-32121000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
6	chr12:32113600-32115200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:32113600-32115600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
8	chr12:32113600-32115800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
9	chr12:32113600-32116000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
10	chr12:32113600-32120800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
11	chr12:32113800-32115400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
12	chr12:32113800-32115400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
13	chr12:32113800-32115600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
14	chr12:32113800-32115600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
15	chr12:32113800-32115600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
16	chr12:32113800-32115600	Enhancers	HepG2	liver
17	chr12:32113800-32115800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:32113800-32116600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
19	chr12:32113800-32117800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:32113800-32118600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
21	chr12:32113800-32120200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
22	chr12:32113800-32123400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:32114000-32115400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
24	chr12:32114000-32115600	Transcr. at gene 5' and 3'	Thymus	Thymus
25	chr12:32114000-32118600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
26	chr12:32114000-32119600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
27	chr12:32114000-32126200	Weak transcription	HSMM	muscle
28	chr12:32114000-32150800	Weak transcription	NHLF	lung
29	chr12:32114200-32115200	Genic enhancers	Fetal Muscle Leg	muscle
30	chr12:32114200-32115400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
31	chr12:32114200-32116000	Enhancers	Spleen	Spleen
32	chr12:32114200-32116200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
33	chr12:32114200-32116600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:32114200-32117200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:32114200-32124800	Weak transcription	HSMMtube	muscle
36	chr12:32114400-32115200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:32114400-32115200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:32114400-32115200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:32114400-32115200	Enhancers	Fetal Brain Male	brain
40	chr12:32114400-32115200	Active TSS	Rectal Smooth Muscle	rectum
41	chr12:32114400-32115400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:32114400-32115400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr12:32114400-32115400	Enhancers	Stomach Mucosa	stomach
44	chr12:32114400-32115400	Genic enhancers	K562	blood
45	chr12:32114400-32115600	Genic enhancers	A549	lung
46	chr12:32114400-32115800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:32114400-32116000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr12:32114400-32116600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:32114400-32118400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:32114400-32119200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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