Variant report

Variant	rs35250158
Chromosome Location	chr6:15312725-15312726
allele	C/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	STAT5A	chr6:15312693-15313989	GM12878	blood:	n/a	chr6:15313922-15313929 chr6:15313734-15313742 chr6:15313211-15313231
2	MTA3	chr6:15312725-15314004	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:15312645-15314261	GM12878	blood:	n/a	n/a
4	SIN3AK20	chr6:15312723-15313012	PFSK-1	brain:	n/a	n/a
5	MTA3	chr6:15312480-15314109	GM12878	blood:	n/a	n/a
6	ATF2	chr6:15312585-15313150	GM12878	blood:	n/a	n/a
7	RUNX3	chr6:15312645-15313049	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:15312487-15314519	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:15312649-15312801	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOSL2	chr6:15312704-15313222	SK-N-SH	brain:	n/a	chr6:15312951-15312960
11	PML	chr6:15312615-15314127	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:15312704-15314473	GM12891	blood:	n/a	n/a
13	WRNIP1	chr6:15312725-15313875	GM12878	blood:	n/a	n/a
14	RUNX3	chr6:15312668-15313123	GM12878	blood:	n/a	n/a
15	PAX5	chr6:15312704-15313017	GM12878	blood:	n/a	n/a
16	NFIC	chr6:15312696-15313232	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:15312558-15312972	H1-hESC	embryonic stem cell:	n/a	n/a
18	IKZF1	chr6:15312722-15313499	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15248268..15250202-chr6:15310561..15313367,2	K562	blood:
2	chr6:15310524..15313443-chr6:15327959..15329867,2	K562	blood:

Variant related genes	Relation type
RNU6-522P	TF binding region
ENSG00000008083	Chromatin interaction
ENSG00000235488	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13193457	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13211366	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34870280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34960211	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35192506	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35870623	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6935676	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71533644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71551047	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7753636	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538144	chr6:15310696-15364984	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15301200-15313000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:15301200-15313400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:15305200-15313600	Weak transcription	Liver	Liver
4	chr6:15306000-15318600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:15306600-15313000	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:15307000-15314800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:15307400-15314400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:15307600-15314000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:15308800-15314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:15309000-15313000	Weak transcription	Fetal Stomach	stomach
11	chr6:15309200-15312800	Weak transcription	Brain Germinal Matrix	brain
12	chr6:15309200-15320600	Weak transcription	A549	lung
13	chr6:15309400-15312800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:15309600-15312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:15309600-15312800	Weak transcription	Fetal Lung	lung
16	chr6:15309600-15313000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:15309600-15313000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:15309800-15312800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:15310200-15312800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:15310200-15318200	Weak transcription	Fetal Kidney	kidney
21	chr6:15310400-15312800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:15310600-15315000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:15310800-15312800	Weak transcription	HepG2	liver
24	chr6:15311000-15312800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:15311000-15312800	Weak transcription	Brain Anterior Caudate	brain
26	chr6:15311000-15314600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr6:15311000-15315200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr6:15311000-15322200	Weak transcription	Fetal Intestine Small	intestine
29	chr6:15311200-15313600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:15311200-15313600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:15311200-15314400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr6:15311200-15317600	Weak transcription	Stomach Mucosa	stomach
33	chr6:15311200-15330600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:15311400-15312800	Weak transcription	Adipose Nuclei	Adipose
35	chr6:15311400-15312800	Weak transcription	Fetal Heart	heart
36	chr6:15311400-15313200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:15311600-15312800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:15311600-15312800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:15311600-15312800	Weak transcription	HSMM	muscle
40	chr6:15311600-15313000	Weak transcription	Right Atrium	heart
41	chr6:15311600-15313400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:15311600-15313400	Weak transcription	Aorta	Aorta
43	chr6:15311800-15313400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr6:15311800-15314400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:15311800-15314600	Enhancers	Primary B cells from peripheral blood	blood
46	chr6:15311800-15315200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr6:15312000-15313000	Enhancers	Primary B cells from cord blood	blood
48	chr6:15312000-15313000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr6:15312000-15314200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:15312000-15314400	Enhancers	Primary monocytes fromperipheralblood	blood

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