Variant report

Variant	rs17287442
Chromosome Location	chr2:172348021-172348022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:172347871-172348165	K562	blood:	n/a	n/a
2	CTCF	chr2:172347920-172348070	HEK293	kidney:	n/a	n/a
3	RAD21	chr2:172347872-172348138	IMR90	lung:	n/a	n/a
4	CTCF	chr2:172347855-172348132	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:172347826-172348094	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr2:172347980-172348130	HPF	lung:	n/a	n/a
7	CTCF	chr2:172347966-172348071	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr2:172347920-172348070	GM12872	blood:	n/a	n/a
9	RAD21	chr2:172347799-172348269	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr2:172348000-172348150	GM12872	blood:	n/a	n/a
11	CTCF	chr2:172347960-172348110	HPF	lung:	n/a	n/a
12	CTCF	chr2:172348000-172348069	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr2:172348015-172348057	GM10266	blood:	n/a	n/a
14	CTCF	chr2:172347920-172348070	AG09309	skin:	n/a	n/a
15	CTCF	chr2:172347863-172348146	IMR90	lung:	n/a	n/a
16	CTCF	chr2:172347934-172348066	GM12892	blood:	n/a	n/a
17	RAD21	chr2:172347852-172348104	K562	blood:	n/a	n/a
18	CTCF	chr2:172347920-172348070	K562	blood:	n/a	n/a
19	CTCF	chr2:172347912-172348108	ProgFib	skin:	n/a	n/a
20	CTCF	chr2:172347940-172348090	AG09309	skin:	n/a	n/a
21	CTCF	chr2:172347980-172348130	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr2:172347926-172348056	MCF-7	breast:	n/a	n/a
23	RAD21	chr2:172347861-172348235	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr2:172347826-172348240	K562	blood:	n/a	n/a
25	CTCF	chr2:172347874-172348170	K562	blood:	n/a	n/a
26	CTCF	chr2:172347961-172348032	Gliobla	brain:	n/a	n/a
27	RAD21	chr2:172347804-172348228	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr2:172347981-172348063	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr2:172347926-172348071	GM12878	blood:	n/a	n/a
30	CTCF	chr2:172347968-172348044	Fibrobl	skin:	n/a	n/a
31	CTCF	chr2:172347896-172348044	A549	lung:	n/a	n/a
32	CTCF	chr2:172347940-172348090	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr2:172347960-172348110	HRE	kidney:	n/a	n/a
34	CTCF	chr2:172347917-172348112	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172344598..172348821-chr2:172376554..172380965,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234061	TF binding region
ENSG00000071967	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10172434	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12617802	0.84[CEU][hapmap]
rs12621138	0.81[CEU][hapmap]
rs17287497	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17287624	0.93[EUR][1000 genomes]
rs3806562	0.81[CEU][hapmap]
rs3806563	0.81[CEU][hapmap]
rs6759487	0.87[CEU][hapmap];0.95[EUR][1000 genomes]
rs72882347	0.97[EUR][1000 genomes]
rs72882358	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72882363	0.95[EUR][1000 genomes]
rs73976175	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs884409	0.87[CEU][hapmap]
rs9646734	0.94[CEU][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17287442	CYBRD1	cis	Whole Blood	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
2	chr2:172327200-172348800	Weak transcription	Spleen	Spleen
3	chr2:172334600-172349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:172334800-172349200	Weak transcription	Esophagus	oesophagus
5	chr2:172335400-172349000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:172338000-172349400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:172338400-172349800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:172339800-172350600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:172339800-172352200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:172340000-172348600	Weak transcription	Ovary	ovary
11	chr2:172340000-172351200	Weak transcription	Aorta	Aorta
12	chr2:172340000-172368400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:172342200-172348200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:172342200-172348600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:172344800-172348600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:172345400-172348200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:172346000-172353000	Weak transcription	Primary T cells from cord blood	blood
18	chr2:172346200-172348800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:172346800-172348400	Enhancers	Colonic Mucosa	Colon
20	chr2:172347200-172348200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:172347800-172348600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:172347800-172348600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:172347800-172348600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:172348000-172348200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:172348000-172348200	Enhancers	Brain Angular Gyrus	brain
26	chr2:172348000-172348400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:172348000-172348400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:172348000-172348600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:172348000-172348600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:172348000-172348600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:172348000-172348600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:172348000-172348600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:172348000-172348600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:172348000-172348600	Enhancers	Brain Substantia Nigra	brain

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