Variant report

Variant	rs4134898
Chromosome Location	chr7:99711614-99711615
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	POLR2A	chr7:99711566-99712147	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99709043..99711986-chr7:99718165..99719979,3	K562	blood:
2	chr7:99711587..99713940-chr7:99722271..99724701,2	K562	blood:

Variant related genes	Relation type
TAF6	TF binding region
ENSG00000214309	Chromatin interaction
ENSG00000166997	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11550034	1.00[CEU][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs62485013	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4134898	DLX5	cis	cerebellum	SCAN
rs4134898	MOSPD3	cis	Whole Blood	GTEx
rs4134898	GATS	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99700200-99716200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:99700200-99716400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:99700400-99715800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:99700400-99716000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99700400-99716200	Weak transcription	Psoas Muscle	Psoas
6	chr7:99700400-99716200	Weak transcription	Small Intestine	intestine
7	chr7:99700600-99712000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:99700600-99712000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:99700600-99712000	Strong transcription	Lung	lung
10	chr7:99700600-99712400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:99700600-99713000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:99700600-99713200	Strong transcription	Fetal Muscle Leg	muscle
13	chr7:99700600-99714600	Strong transcription	Fetal Intestine Small	intestine
14	chr7:99700600-99715200	Strong transcription	Fetal Stomach	stomach
15	chr7:99700600-99716200	Weak transcription	Fetal Brain Male	brain
16	chr7:99700800-99711800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:99700800-99711800	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr7:99700800-99712000	Strong transcription	Brain Cingulate Gyrus	brain
19	chr7:99700800-99712000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr7:99700800-99712200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:99700800-99712200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:99700800-99712600	Strong transcription	Colonic Mucosa	Colon
23	chr7:99700800-99713000	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:99700800-99713000	Strong transcription	Thymus	Thymus
25	chr7:99700800-99714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:99701000-99711800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:99701000-99712000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr7:99701000-99712000	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr7:99701000-99712000	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:99701000-99712800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr7:99701000-99712800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:99701000-99712800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr7:99701000-99713000	Strong transcription	Fetal Thymus	thymus
34	chr7:99701000-99713000	Strong transcription	Spleen	Spleen
35	chr7:99701000-99713200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:99701000-99714000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:99701000-99714600	Strong transcription	Fetal Intestine Large	intestine
38	chr7:99701200-99712000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:99701200-99712000	Strong transcription	Brain Germinal Matrix	brain
40	chr7:99701200-99712000	Strong transcription	Fetal Brain Female	brain
41	chr7:99701200-99712000	Strong transcription	Gastric	stomach
42	chr7:99701200-99712000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:99701200-99712000	Strong transcription	Dnd41	blood
44	chr7:99701200-99712200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:99701200-99712800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr7:99701200-99713000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:99701200-99714600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:99701400-99713200	Strong transcription	Adipose Nuclei	Adipose
49	chr7:99701400-99713800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:99701400-99714600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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