Variant report

Variant	rs6831585
Chromosome Location	chr4:15776181-15776182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr4:15775711-15776286	A549	lung:	n/a	n/a
2	MAX	chr4:15775679-15776199	Hela-S3	cervix:	n/a	n/a
3	MAX	chr4:15775461-15776194	A549	lung:	n/a	n/a
4	SP1	chr4:15775536-15776307	A549	lung:	n/a	n/a
5	NR3C1	chr4:15775714-15776309	A549	lung:	n/a	n/a
6	FOXA2	chr4:15775633-15776300	A549	lung:	n/a	n/a
7	GATA3	chr4:15775581-15776286	A549	lung:	n/a	n/a
8	NR3C1	chr4:15775707-15776360	A549	lung:	n/a	n/a
9	SP1	chr4:15775538-15776372	A549	lung:	n/a	n/a
10	FOXA2	chr4:15775628-15776189	A549	lung:	n/a	n/a
11	CEBPB	chr4:15775603-15776240	A549	lung:	n/a	n/a
12	FOXA1	chr4:15775754-15776267	A549	lung:	n/a	n/a
13	NR3C1	chr4:15775712-15776327	A549	lung:	n/a	n/a
14	EP300	chr4:15775612-15776327	A549	lung:	n/a	n/a
15	TCF12	chr4:15775553-15776370	A549	lung:	n/a	n/a
16	NR3C1	chr4:15775568-15776344	A549	lung:	n/a	n/a
17	EP300	chr4:15775525-15776300	A549	lung:	n/a	n/a
18	FOSL2	chr4:15775647-15776217	A549	lung:	n/a	n/a
19	NR3C1	chr4:15775694-15776182	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15771423..15774001-chr4:15776022..15777670,2	K562	blood:

No data

Variant related genes	Relation type
CD38	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10002171	0.80[ASN][1000 genomes]
rs10002394	0.80[ASN][1000 genomes]
rs10013987	0.81[ASN][1000 genomes]
rs10805347	0.86[JPT][hapmap]
rs1130169	0.92[CEU][hapmap]
rs11930667	0.80[ASN][1000 genomes]
rs11939567	0.87[ASN][1000 genomes]
rs13116397	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13116669	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13120356	0.80[ASN][1000 genomes]
rs13121175	0.80[ASN][1000 genomes]
rs16892396	0.80[ASN][1000 genomes]
rs16892407	0.87[ASN][1000 genomes]
rs34347605	0.81[ASN][1000 genomes]
rs35802132	0.81[ASN][1000 genomes]
rs3756241	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3775954	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4257648	0.85[ASN][1000 genomes]
rs4698417	0.87[ASN][1000 genomes]
rs6449180	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6449190	0.86[JPT][hapmap]
rs6449192	0.82[YRI][hapmap]
rs68040828	0.80[ASN][1000 genomes]
rs6824164	0.80[ASN][1000 genomes]
rs6836946	0.90[CHD][hapmap]
rs6839601	0.87[ASN][1000 genomes]
rs6841880	0.90[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv10460	chr4:15757611-15818206	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2760884	chr4:15759680-15776181	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1013204	chr4:15762970-15836237	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1010597	chr4:15776181-15836237	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6831585	C1QTNF7	cis	cerebellum	SCAN
rs6831585	SLAMF8	trans	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15767200-15779400	Weak transcription	Spleen	Spleen
2	chr4:15768200-15777200	Enhancers	Fetal Thymus	thymus
3	chr4:15769200-15778600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:15771200-15779400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:15772400-15776200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:15772400-15776600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:15772800-15776200	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:15772800-15778000	Flanking Active TSS	Dnd41	blood
9	chr4:15773600-15779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:15774000-15779800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:15774400-15779400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:15774400-15779600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:15774400-15780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:15774400-15780000	Weak transcription	Small Intestine	intestine
15	chr4:15774600-15779200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:15774600-15779600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:15774800-15776400	Enhancers	Stomach Mucosa	stomach
18	chr4:15774800-15779000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:15775200-15779200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:15775400-15776200	Enhancers	GM12878-XiMat	blood
21	chr4:15775400-15776400	Enhancers	Hela-S3	cervix
22	chr4:15775400-15776600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:15775400-15776800	Enhancers	Primary T cells from cord blood	blood
24	chr4:15775600-15776200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:15775800-15776200	Bivalent Enhancer	HepG2	liver
26	chr4:15775800-15777400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:15775800-15779000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:15776000-15776200	Flanking Active TSS	A549	lung
29	chr4:15776000-15777400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr4:15776000-15778600	Weak transcription	Thymus	Thymus
31	chr4:15776000-15779600	Weak transcription	Rectal Mucosa Donor 29	rectum

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