Variant report

Variant	rs6975031
Chromosome Location	chr7:99739362-99739363
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	CEBPB	chr7:99739315-99739553	MCF-7	breast:	n/a	chr7:99739434-99739445
2	MAX	chr7:99739187-99739564	NB4	blood:	n/a	chr7:99739359-99739369 chr7:99739384-99739395
3	SPI1	chr7:99739206-99739576	HL-60	blood:	n/a	chr7:99739402-99739411
4	POLR2A	chr7:99739122-99739551	HL-60	blood:	n/a	n/a
5	MXI1	chr7:99739322-99739450	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr7:99739241-99739589	Hela-S3	cervix:	n/a	chr7:99739434-99739445
7	MAX	chr7:99739231-99739589	Hela-S3	cervix:	n/a	chr7:99739359-99739369 chr7:99739384-99739395
8	CEBPB	chr7:99739298-99739511	A549	lung:	n/a	chr7:99739434-99739445
9	USF2	chr7:99739258-99739515	Hela-S3	cervix:	n/a	n/a
10	MYC	chr7:99739159-99739599	NB4	blood:	n/a	chr7:99739359-99739369 chr7:99739384-99739395

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99739079..99742104-chr7:99744920..99746828,3	MCF-7	breast:
2	chr7:99737883..99740607-chr7:99754940..99757198,2	K562	blood:

Variant related genes	Relation type
RPL7P60	TF binding region
ENSG00000146826	Chromatin interaction
ENSG00000188186	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11489584	0.80[CEU][hapmap]
rs11979397	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539985	0.98[ASN][1000 genomes]
rs1569055	0.80[EUR][1000 genomes]
rs62482167	0.86[EUR][1000 genomes]
rs941290	0.85[TSI][hapmap]

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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
9	nsv966865	chr7:99735585-99740478	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6975031	DLX5	cis	cerebellum	SCAN
rs6975031	GATS	cis	cerebellum	SCAN
rs6975031	AGFG2	cis	cerebellum	SCAN
rs6975031	AP4M1	cis	Artery Tibial	GTEx
rs6975031	AP4M1	cis	lymphoblastoid	seeQTL
rs6975031	ZKSCAN1	cis	multi-tissue	Pritchard
rs6975031	FAM185A	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99728800-99740000	Weak transcription	Colonic Mucosa	Colon
2	chr7:99728800-99746000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:99731000-99745600	Weak transcription	Pancreas	Pancrea
4	chr7:99736200-99741800	Weak transcription	Thymus	Thymus
5	chr7:99736200-99745800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:99736400-99745600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:99738000-99740200	Enhancers	Placenta	Placenta
8	chr7:99738400-99740000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr7:99738600-99739600	Enhancers	Hela-S3	cervix
10	chr7:99738600-99740400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:99738800-99739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:99738800-99739400	Enhancers	Stomach Mucosa	stomach
13	chr7:99738800-99739400	Enhancers	GM12878-XiMat	blood
14	chr7:99738800-99740600	Enhancers	Primary B cells from cord blood	blood
15	chr7:99738800-99741000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr7:99739000-99739400	Enhancers	NHEK	skin
17	chr7:99739000-99739800	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:99739000-99739800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:99739000-99740000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:99739000-99740200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:99739000-99741000	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:99739200-99739400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:99739200-99739400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:99739200-99739400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:99739200-99739600	Enhancers	Fetal Thymus	thymus
26	chr7:99739200-99739600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:99739200-99740000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr7:99739200-99740200	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:99739200-99740200	Enhancers	Fetal Intestine Large	intestine
30	chr7:99739200-99740200	Enhancers	Fetal Intestine Small	intestine

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