Variant report

Variant	rs4333185
Chromosome Location	chr4:110736058-110736059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr4:110736053-110737292	GM12878	blood:	n/a	n/a
2	RCOR1	chr4:110735853-110737235	K562	blood:	n/a	n/a
3	GATA1	chr4:110735847-110737381	PBDE	blood:	n/a	n/a
4	POLR2A	chr4:110735989-110737537	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr4:110735849-110737528	K562	blood:	n/a	chr4:110736945-110736955
6	POLR2A	chr4:110735958-110737421	K562	blood:	n/a	n/a
7	WRNIP1	chr4:110736009-110737270	GM12878	blood:	n/a	n/a
8	IRF1	chr4:110735931-110736950	K562	blood:	n/a	chr4:110736567-110736581 chr4:110736148-110736159 chr4:110736554-110736568
9	POLR2A	chr4:110735980-110737304	Raji	blood:	n/a	n/a
10	JUND	chr4:110735969-110737403	K562	blood:	n/a	n/a
11	TEAD4	chr4:110735931-110737260	K562	blood:	n/a	n/a
12	MXI1	chr4:110735827-110739409	SK-N-SH	brain:	n/a	n/a
13	GABPA	chr4:110735983-110737467	MCF-7	breast:	n/a	n/a
14	MAZ	chr4:110736027-110737584	IMR90	lung:	n/a	n/a
15	POLR2A	chr4:110735879-110737296	K562	blood:	n/a	n/a
16	NR2F2	chr4:110735701-110737852	K562	blood:	n/a	n/a
17	POLR2A	chr4:110735925-110737330	PBDE	blood:	n/a	n/a
18	EP300	chr4:110735989-110737285	K562	blood:	n/a	chr4:110736637-110736644
19	POLR2A	chr4:110736016-110738028	K562	blood:	n/a	n/a
20	SIN3A	chr4:110735973-110737710	H1-hESC	embryonic stem cell:	n/a	chr4:110737131-110737141
21	E2F4	chr4:110736042-110736111	MCF10A-Er-Src	breast:	n/a	n/a
22	CREB1	chr4:110736020-110737370	GM12878	blood:	n/a	n/a
23	MYC	chr4:110735905-110737851	K562	blood:	n/a	chr4:110736945-110736955
24	MXI1	chr4:110735986-110737847	IMR90	lung:	n/a	n/a
25	TBL1XR1	chr4:110736026-110737010	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:110622109..110625008-chr4:110733953..110738254,7	MCF-7	breast:
2	chr4:110648642..110653205-chr4:110733223..110738599,11	K562	blood:
3	chr4:110734994..110736731-chr4:110899705..110902509,2	K562	blood:
4	chr4:110733962..110737774-chr4:110769396..110773000,3	K562	blood:
5	chr4:110353826..110356085-chr4:110735938..110738635,3	MCF-7	breast:
6	chr4:110648895..110652104-chr4:110733858..110738186,8	K562	blood:
7	chr4:110621787..110624443-chr4:110734368..110736643,3	K562	blood:
8	chr4:110622297..110625771-chr4:110735143..110738902,5	K562	blood:
9	chr13:31038798..31040752-chr4:110734724..110737666,2	MCF-7	breast:
10	chr4:110733952..110736474-chr4:110747791..110750074,2	MCF-7	breast:

No data

Variant related genes	Relation type
GAR1	TF binding region
ENSG00000123739	Chromatin interaction
ENSG00000138798	Chromatin interaction
ENSG00000138802	Chromatin interaction
ENSG00000180245	Chromatin interaction
ENSG00000189403	Chromatin interaction
ENSG00000138794	Chromatin interaction
ENSG00000247950	Chromatin interaction
ENSG00000183423	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1002989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11930711	0.83[ASW][hapmap];0.91[CEU][hapmap];0.93[LWK][hapmap];0.92[TSI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12648667	0.91[CEU][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12649021	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4266296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4298142	0.83[ASW][hapmap];0.81[MKK][hapmap]
rs62324952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62324953	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7672881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7673186	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs884711	0.83[ASW][hapmap];0.85[MEX][hapmap];0.87[MKK][hapmap];0.84[YRI][hapmap]

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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110722600-110736200	Weak transcription	Pancreas	Pancrea
2	chr4:110732200-110736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:110732400-110736200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:110735400-110737600	Active TSS	K562	blood
5	chr4:110735800-110736200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr4:110735800-110736200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr4:110735800-110736200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr4:110735800-110736200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr4:110735800-110736400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr4:110735800-110736400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:110735800-110736400	Active TSS	Brain Germinal Matrix	brain
12	chr4:110735800-110736400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr4:110735800-110736400	Flanking Active TSS	Dnd41	blood
14	chr4:110735800-110737000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:110735800-110737000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr4:110735800-110737400	Active TSS	Brain Angular Gyrus	brain
17	chr4:110735800-110737400	Active TSS	Brain Hippocampus Middle	brain
18	chr4:110735800-110737400	Active TSS	Fetal Brain Female	brain
19	chr4:110735800-110737400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr4:110735800-110737400	Active TSS	Stomach Smooth Muscle	stomach
21	chr4:110735800-110737600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:110735800-110737600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:110735800-110737600	Active TSS	Brain Anterior Caudate	brain
24	chr4:110735800-110737600	Active TSS	Fetal Intestine Small	intestine
25	chr4:110735800-110737600	Active TSS	Fetal Kidney	kidney
26	chr4:110735800-110737600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr4:110735800-110737600	Active TSS	Fetal Lung	lung
28	chr4:110735800-110737800	Active TSS	H1 Cell Line	embryonic stem cell
29	chr4:110735800-110737800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:110735800-110737800	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr4:110735800-110737800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:110735800-110737800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:110735800-110737800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:110735800-110738000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr4:110735800-110738000	Active TSS	HMEC	breast
36	chr4:110735800-110738400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:110735800-110738400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:110735800-110738400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:110735800-110738600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr4:110735800-110738600	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr4:110736000-110736200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:110736000-110736200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:110736000-110736200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr4:110736000-110736200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr4:110736000-110736200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:110736000-110736200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr4:110736000-110736200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:110736000-110736200	Weak transcription	Esophagus	oesophagus
49	chr4:110736000-110736200	Flanking Active TSS	Fetal Brain Male	brain
50	chr4:110736000-110736200	Flanking Active TSS	Fetal Heart	heart

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