Variant report

Variant	rs3811394
Chromosome Location	chr1:211308085-211308086
allele	A/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	CTCF	chr1:211308000-211308150	HCM	heart:	n/a	n/a
2	CTCF	chr1:211308060-211308210	NHLF	lung:	n/a	n/a
3	TCF7L2	chr1:211307319-211308242	HCT-116	colon:	n/a	chr1:211308084-211308094 chr1:211308082-211308098 chr1:211308082-211308098 chr1:211308083-211308097 chr1:211308086-211308095 chr1:211308085-211308094
4	CTCF	chr1:211306637-211308259	A549	lung:	n/a	chr1:211307425-211307438 chr1:211307562-211307575 chr1:211307560-211307578 chr1:211307673-211307686 chr1:211307518-211307531 chr1:211307561-211307577 chr1:211307562-211307575
5	RAD21	chr1:211307204-211308095	A549	lung:	n/a	chr1:211307669-211307688 chr1:211307422-211307436 chr1:211307673-211307687 chr1:211307586-211307599 chr1:211307558-211307577
6	CTCF	chr1:211308000-211308150	HCPEpiC	choroid plexus:	n/a	n/a
7	RAD21	chr1:211305554-211309271	SK-N-SH	brain:	n/a	chr1:211307669-211307688 chr1:211308869-211308888 chr1:211307118-211307132 chr1:211308209-211308219 chr1:211307422-211307436 chr1:211307673-211307687 chr1:211307586-211307599 chr1:211307558-211307577 chr1:211308879-211308886
8	TCF7L2	chr1:211308006-211308117	PANC-1	pancreas:	n/a	chr1:211308084-211308094 chr1:211308082-211308098 chr1:211308082-211308098 chr1:211308083-211308097 chr1:211308086-211308095 chr1:211308085-211308094
9	CTCF	chr1:211306699-211309685	SK-N-SH	brain:	n/a	chr1:211308873-211308886 chr1:211307425-211307438 chr1:211308872-211308888 chr1:211307562-211307575 chr1:211307560-211307578 chr1:211307673-211307686 chr1:211307518-211307531 chr1:211307561-211307577 chr1:211307562-211307575
10	CTCF	chr1:211308020-211308170	GM12872	blood:	n/a	n/a
11	SMC3	chr1:211306536-211309262	SK-N-SH	brain:	n/a	chr1:211307562-211307576 chr1:211307118-211307132
12	RAD21	chr1:211307189-211308111	IMR90	lung:	n/a	chr1:211307669-211307688 chr1:211307422-211307436 chr1:211307673-211307687 chr1:211307586-211307599 chr1:211307558-211307577
13	GATA2	chr1:211306573-211308155	SH-SY5Y	brain:	n/a	chr1:211306947-211306956 chr1:211306949-211306956 chr1:211306942-211306963 chr1:211306947-211306957 chr1:211306949-211306956 chr1:211306949-211306956

No.	Distal block	Cell Line	Cell type
1	chr1:210545779..210548757-chr1:211307483..211309293,2	K562	blood:
2	chr1:210546747..210548989-chr1:211307016..211309989,4	MCF-7	breast:
3	chr1:210316840..210317797-chr1:211307565..211308512,2	K562	blood:

Variant related genes	Relation type
KCNH1	TF binding region
KCNH1-IT1	TF binding region
ENSG00000200972	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12568832	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12749443	0.84[ASN][1000 genomes]
rs12758791	0.85[ASN][1000 genomes]
rs17017239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2185069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34210258	0.83[AFR][1000 genomes]
rs35505648	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35835736	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4951720	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951725	0.87[ASN][1000 genomes]
rs4951727	0.84[ASN][1000 genomes]
rs867847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs867848	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211307400-211308200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr1:211307400-211308200	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:211307400-211308200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
4	chr1:211307400-211308400	Bivalent Enhancer	Fetal Thymus	thymus
5	chr1:211307600-211308200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:211307600-211308200	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:211307600-211308200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
8	chr1:211307600-211308200	Bivalent Enhancer	Thymus	Thymus
9	chr1:211307600-211308200	Enhancers	HepG2	liver
10	chr1:211307600-211308600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:211307600-211308800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:211307600-211308800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:211307800-211308200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr1:211307800-211308200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:211307800-211308200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:211307800-211308400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:211307800-211308600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr1:211307800-211308600	Weak transcription	Right Atrium	heart
19	chr1:211307800-211308800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:211308000-211308200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr1:211308000-211308200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:211308000-211308200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:211308000-211308200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:211308000-211308200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
25	chr1:211308000-211308200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
26	chr1:211308000-211308200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:211308000-211308200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:211308000-211308200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:211308000-211308200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:211308000-211308200	Enhancers	Brain Substantia Nigra	brain
31	chr1:211308000-211308400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:211308000-211308400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:211308000-211308400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr1:211308000-211308400	Enhancers	Brain Hippocampus Middle	brain
35	chr1:211308000-211308800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:211308000-211308800	Enhancers	A549	lung
37	chr1:211308000-211308800	Enhancers	HSMMtube	muscle
38	chr1:211308000-211308800	Enhancers	Osteobl	bone
39	chr1:211308000-211309200	Enhancers	HSMM	muscle

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