Variant report

Variant	rs4699258
Chromosome Location	chr4:102710688-102710689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10446682	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10446706	0.91[EUR][1000 genomes]
rs10446707	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10446708	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11929782	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11935577	0.90[EUR][1000 genomes]
rs11938185	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11938245	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11940179	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11944577	0.90[EUR][1000 genomes]
rs11944613	0.90[EUR][1000 genomes]
rs13117264	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13124747	0.91[EUR][1000 genomes]
rs13131198	0.91[EUR][1000 genomes]
rs13141934	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13146194	0.92[EUR][1000 genomes]
rs13152198	0.91[EUR][1000 genomes]
rs17031641	0.90[EUR][1000 genomes]
rs17200433	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17266357	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17266552	0.90[EUR][1000 genomes]
rs34261083	0.86[EUR][1000 genomes]
rs34499378	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34851381	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35194352	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35416717	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35446399	0.91[EUR][1000 genomes]
rs35748951	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35838403	0.92[EUR][1000 genomes]
rs35979946	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4398527	0.90[EUR][1000 genomes]
rs4496585	0.90[EUR][1000 genomes]
rs4698969	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4699259	0.92[EUR][1000 genomes]
rs4699260	0.90[EUR][1000 genomes]
rs4699261	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4699262	0.92[EUR][1000 genomes]
rs66638185	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67330256	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997690	chr4:102397296-102758125	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv537201	chr4:102397296-102758125	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv869164	chr4:102483189-103213842	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv999861	chr4:102576115-102930562	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv879681	chr4:102641265-102769677	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2757945	chr4:102662699-103008940	Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv2759269	chr4:102662699-103008940	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv967778	chr4:102669522-102715155	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1011180	chr4:102685236-102985945	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv537202	chr4:102685236-102985945	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4699258	BANK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102704400-102711800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:102705200-102711600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:102706400-102711600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:102706400-102711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:102706600-102711200	Weak transcription	Primary T cells from cord blood	blood
6	chr4:102706600-102711600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:102706600-102711600	Weak transcription	Brain Substantia Nigra	brain
8	chr4:102706800-102711600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:102707000-102711200	Weak transcription	GM12878-XiMat	blood
10	chr4:102707000-102711600	Weak transcription	HUVEC	blood vessel
11	chr4:102709200-102711200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:102709200-102711600	Weak transcription	Brain Anterior Caudate	brain
13	chr4:102709400-102711400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:102709400-102711600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:102709400-102711600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:102709800-102711200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:102709800-102711200	Enhancers	Primary B cells from cord blood	blood
18	chr4:102710000-102711400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:102710000-102711400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:102710000-102711600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:102710000-102711600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:102710400-102711600	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:102710600-102710800	Enhancers	Spleen	Spleen
24	chr4:102710600-102711200	Enhancers	A549	lung
25	chr4:102710600-102711400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:102710600-102711400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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