Variant report

Variant	rs234110
Chromosome Location	chr1:184943837-184943838
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	CHD2	chr1:184942497-184943982	GM12878	blood:	n/a	n/a
2	BHLHE40	chr1:184942587-184944066	K562	blood:	n/a	chr1:184943681-184943697 chr1:184943362-184943378 chr1:184943139-184943155 chr1:184943266-184943282
3	MYC	chr1:184941950-184944116	K562	blood:	n/a	chr1:184942550-184942560 chr1:184943166-184943176 chr1:184942913-184942922
4	JUND	chr1:184942428-184944015	K562	blood:	n/a	chr1:184943419-184943428 chr1:184943845-184943855 chr1:184942569-184942578
5	SPI1	chr1:184943537-184944024	HL-60	blood:	n/a	chr1:184943780-184943793 chr1:184943756-184943769
6	SPI1	chr1:184943681-184943914	K562	blood:	n/a	chr1:184943780-184943793 chr1:184943756-184943769
7	TBP	chr1:184943433-184943939	GM12878	blood:	n/a	n/a
8	HCFC1	chr1:184942442-184944030	K562	blood:	n/a	n/a
9	RELA	chr1:184942607-184943886	GM19193	blood:	n/a	n/a
10	MAX	chr1:184942668-184943998	H1-hESC	embryonic stem cell:	n/a	chr1:184943166-184943176 chr1:184942913-184942922
11	REST	chr1:184942521-184944055	HL-60	blood:	n/a	chr1:184943237-184943250 chr1:184943687-184943697
12	TAF1	chr1:184942527-184944002	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF2	chr1:184943777-184943977	GM12878	blood:	n/a	n/a
14	E2F6	chr1:184942659-184944100	H1-hESC	embryonic stem cell:	n/a	chr1:184943529-184943538 chr1:184942873-184942885 chr1:184943146-184943156 chr1:184943697-184943708 chr1:184943698-184943710
15	ZC3H11A	chr1:184943369-184944062	K562	blood:	n/a	n/a
16	NFATC1	chr1:184942483-184943927	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:184941676-184943970	GM12892	blood:	n/a	n/a
18	EGR1	chr1:184942826-184943921	HCT-116	colon:	n/a	chr1:184943699-184943713 chr1:184943143-184943156 chr1:184943143-184943156 chr1:184943146-184943156 chr1:184943419-184943429 chr1:184943146-184943155 chr1:184943823-184943832 chr1:184943143-184943156
19	POLR2A	chr1:184941854-184944085	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:184941715-184943941	GM19099	blood:	n/a	n/a
21	POLR2A	chr1:184942638-184943983	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAZ	chr1:184942374-184943941	GM12878	blood:	n/a	chr1:184942550-184942560 chr1:184943166-184943176 chr1:184942913-184942922
23	POLR2A	chr1:184942450-184944173	GM19193	blood:	n/a	n/a
24	POLR2A	chr1:184942590-184943931	IMR90	lung:	n/a	n/a
25	POLR2A	chr1:184942527-184944269	GM18505	blood:	n/a	n/a
26	EP300	chr1:184942609-184944001	GM12878	blood:	n/a	chr1:184943529-184943538 chr1:184942865-184942881 chr1:184942738-184942748 chr1:184943139-184943155
27	ELF1	chr1:184942499-184943883	GM12878	blood:	n/a	chr1:184943163-184943175
28	ATF2	chr1:184943387-184944117	GM12878	blood:	n/a	n/a
29	CREB1	chr1:184943231-184944004	H1-hESC	embryonic stem cell:	n/a	n/a
30	CCNT2	chr1:184942581-184943881	K562	blood:	n/a	chr1:184942636-184942645
31	E2F4	chr1:184942745-184944027	K562	blood:	n/a	chr1:184943697-184943708 chr1:184943529-184943538 chr1:184942873-184942885 chr1:184943146-184943156 chr1:184943698-184943710
32	YY1	chr1:184942677-184943864	GM12878	blood:	n/a	chr1:184943415-184943429 chr1:184943139-184943153 chr1:184943168-184943182 chr1:184943145-184943154 chr1:184943180-184943194 chr1:184943142-184943156 chr1:184943260-184943274
33	REST	chr1:184943725-184944089	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr1:184942060-184944673	GM12892	blood:	n/a	n/a
35	SPI1	chr1:184943587-184943933	GM12891	blood:	n/a	chr1:184943780-184943793 chr1:184943756-184943769
36	RELA	chr1:184941646-184944155	GM12878	blood:	n/a	n/a
37	RUNX3	chr1:184942172-184944140	GM12878	blood:	n/a	chr1:184943299-184943314
38	RELA	chr1:184942610-184943959	GM18505	blood:	n/a	n/a
39	EBF1	chr1:184942659-184944219	GM12878	blood:	n/a	chr1:184943353-184943364
40	MAX	chr1:184943374-184943870	MCF-7	breast:	n/a	n/a
41	TBL1XR1	chr1:184942722-184943932	K562	blood:	n/a	n/a
42	MAX	chr1:184943503-184944079	H1-hESC	embryonic stem cell:	n/a	n/a
43	TEAD4	chr1:184943288-184944105	K562	blood:	n/a	n/a
44	POLR2A	chr1:184941611-184944370	GM12891	blood:	n/a	n/a
45	MAX	chr1:184943350-184943987	SK-N-SH	brain:	n/a	n/a
46	BHLHE40	chr1:184942648-184943977	GM12878	blood:	n/a	chr1:184943681-184943697 chr1:184943362-184943378 chr1:184943139-184943155 chr1:184943266-184943282
47	MTA3	chr1:184943237-184944075	GM12878	blood:	n/a	n/a
48	MAX	chr1:184942770-184943957	ECC-1	luminal epithelium:	n/a	chr1:184943166-184943176 chr1:184942913-184942922
49	FOXM1	chr1:184942345-184944204	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:184942332-184943939	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:184941416..184944338-chr1:185125198..185127765,2	K562	blood:
2	chr1:184942889..184944424-chr1:185285470..185287949,2	K562	blood:
3	chr1:184774518..184777163-chr1:184941590..184943842,2	K562	blood:
4	chr1:184941281..184944338-chr1:185124829..185129491,4	K562	blood:
5	chr1:184705153..184707744-chr1:184942725..184944472,2	K562	blood:

Variant related genes	Relation type
FAM129A	TF binding region
ENSG00000135842	Chromatin interaction
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction
ENSG00000116406	Chromatin interaction
ENSG00000116668	Chromatin interaction
ENSG00000121486	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs180046	1.00[CEU][hapmap]
rs2135736	0.86[EUR][1000 genomes]
rs234090	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs234634	1.00[CEU][hapmap]
rs234635	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs234651	0.89[CEU][hapmap]
rs234652	0.89[CEU][hapmap]
rs234653	0.87[CEU][hapmap]
rs234654	0.89[CEU][hapmap]
rs234656	0.89[CEU][hapmap]
rs234680	1.00[CEU][hapmap]
rs234682	1.00[CEU][hapmap]
rs234683	1.00[CEU][hapmap]
rs28927681	0.89[CEU][hapmap]
rs41321748	0.89[CEU][hapmap];0.82[MEX][hapmap]
rs56098980	0.84[EUR][1000 genomes]
rs569243	0.89[CEU][hapmap]
rs58512974	0.84[EUR][1000 genomes]
rs603160	0.89[CEU][hapmap]
rs639593	0.89[CEU][hapmap]
rs642027	0.89[CEU][hapmap]
rs73054649	0.84[EUR][1000 genomes]
rs73054655	0.84[EUR][1000 genomes]
rs7528626	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1012048	chr1:184913958-184959967	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184940000-184944200	Active TSS	Stomach Smooth Muscle	stomach
2	chr1:184940200-184944000	Active TSS	Aorta	Aorta
3	chr1:184940800-184944000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:184940800-184944000	Active TSS	Right Ventricle	heart
5	chr1:184941000-184944200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:184941200-184944200	Active TSS	Colon Smooth Muscle	Colon
7	chr1:184941200-184944200	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr1:184941400-184944000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:184941400-184944000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:184941400-184944000	Active TSS	Left Ventricle	heart
11	chr1:184941600-184944000	Active TSS	Duodenum Mucosa	Duodenum
12	chr1:184941600-184944200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:184941600-184944200	Active TSS	Pancreas	Pancrea
14	chr1:184941800-184944000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:184941800-184944000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:184941800-184944000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
17	chr1:184941800-184944000	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:184942000-184944000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr1:184942000-184944200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:184942000-184944200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:184942200-184944000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:184942200-184944000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:184942200-184944000	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr1:184942200-184944200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:184942200-184944200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr1:184942200-184944200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:184942400-184944000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:184942400-184944000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:184942400-184944000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:184942400-184944000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr1:184942400-184944200	Active TSS	Ovary	ovary
32	chr1:184942600-184944000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:184942600-184944000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:184942600-184944000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:184942600-184944000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:184942600-184944000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:184942600-184944000	Bivalent Enhancer	Fetal Brain Male	brain
38	chr1:184942600-184944000	Active TSS	Hela-S3	cervix
39	chr1:184942600-184944000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
40	chr1:184942800-184944000	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr1:184943000-184944000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr1:184943000-184944000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
43	chr1:184943000-184944000	Bivalent/Poised TSS	A549	lung
44	chr1:184943400-184944000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
45	chr1:184943400-184944000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:184943400-184944000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr1:184943400-184944000	Bivalent/Poised TSS	Osteobl	bone
48	chr1:184943400-184944200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:184943600-184944000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:184943600-184944000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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