Variant report

Variant	rs6712098
Chromosome Location	chr2:172348395-172348396
allele	A/G
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	SPI1	chr2:172348332-172348628	HL-60	blood:	n/a	chr2:172348502-172348511 chr2:172348500-172348513

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

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

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10177689	0.87[ASN][1000 genomes]
rs10192493	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10195398	0.92[CHD][hapmap]
rs10195990	1.00[JPT][hapmap]
rs10198915	0.83[ASN][1000 genomes]
rs10202883	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10210332	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13386613	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13390534	0.85[CHD][hapmap]
rs13396824	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13402901	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13414723	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs28663293	0.87[ASN][1000 genomes]
rs4566333	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs58367130	0.87[ASN][1000 genomes]
rs58808521	0.87[ASN][1000 genomes]
rs59318451	0.87[ASN][1000 genomes]
rs60523677	0.96[ASN][1000 genomes]
rs73976158	0.83[ASN][1000 genomes]
rs73976177	0.96[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6712098	CYBRD1	cis	cerebellum	SCAN
rs6712098	CYBRD1	cis	parietal	SCAN

Chromatin state (count:32 , 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	chr2:172342200-172348600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:172344800-172348600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:172346000-172353000	Weak transcription	Primary T cells from cord blood	blood
16	chr2:172346200-172348800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:172346800-172348400	Enhancers	Colonic Mucosa	Colon
18	chr2:172347800-172348600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:172347800-172348600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:172347800-172348600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:172348000-172348400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:172348000-172348400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:172348000-172348600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:172348000-172348600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:172348000-172348600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:172348000-172348600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:172348000-172348600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:172348000-172348600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:172348000-172348600	Enhancers	Brain Substantia Nigra	brain
30	chr2:172348200-172348400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:172348200-172348600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:172348200-172348600	Enhancers	Duodenum Mucosa	Duodenum

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