Variant report

Variant	rs4696709
Chromosome Location	chr4:7966812-7966813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7959441..7961778-chr4:7964289..7966996,2	K562	blood:
2	chr4:7961563..7964655-chr4:7964819..7967108,3	K562	blood:
3	chr4:7965044..7967214-chr4:7970387..7972613,2	MCF-7	breast:
4	chr4:7724746..7727084-chr4:7966375..7967893,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13137347	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16841504	0.85[ASN][1000 genomes]
rs2292735	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2292736	0.87[ASN][1000 genomes]
rs2292737	0.80[ASN][1000 genomes]
rs2292738	0.85[ASN][1000 genomes]
rs28409515	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3749597	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4696886	0.82[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs9799872	0.80[CHB][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv593621	chr4:7943106-7969594	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4696709	ABLIM2	cis	parietal	SCAN
rs4696709	PSAPL1	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7959400-7971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:7963000-7968200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:7963000-7971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:7963200-7967400	Weak transcription	Pancreas	Pancrea
5	chr4:7963200-7968000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:7963200-7969200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:7963200-7969200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:7963200-7969400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:7963200-7969800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:7963200-7971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:7963200-7971800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:7963400-7975400	Weak transcription	Aorta	Aorta
13	chr4:7963600-7969400	Weak transcription	Fetal Kidney	kidney
14	chr4:7963800-7969200	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:7963800-7969400	Weak transcription	Osteobl	bone
16	chr4:7964200-7967600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr4:7964400-7967800	Enhancers	Placenta	Placenta
18	chr4:7964400-7971600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr4:7964800-7968800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:7964800-7971000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:7965000-7968200	Weak transcription	Fetal Intestine Large	intestine
22	chr4:7965000-7969400	Weak transcription	Gastric	stomach
23	chr4:7965400-7967000	Enhancers	HepG2	liver
24	chr4:7965400-7968800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:7965400-7968800	Weak transcription	Brain Substantia Nigra	brain
26	chr4:7965400-7969600	Weak transcription	GM12878-XiMat	blood
27	chr4:7965600-7968800	Weak transcription	Brain Angular Gyrus	brain
28	chr4:7965600-7969400	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:7965600-7971200	Weak transcription	Brain Anterior Caudate	brain
30	chr4:7965800-7967000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:7965800-7967200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:7965800-7967800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:7965800-7968800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:7965800-7968800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:7965800-7969600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:7966000-7971600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:7966200-7967000	Enhancers	Stomach Smooth Muscle	stomach
38	chr4:7966200-7967200	Enhancers	Fetal Thymus	thymus
39	chr4:7966200-7967600	Enhancers	Fetal Stomach	stomach
40	chr4:7966200-7968000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr4:7966400-7967000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:7966400-7967000	Enhancers	Duodenum Mucosa	Duodenum
43	chr4:7966400-7967400	Enhancers	Fetal Muscle Trunk	muscle
44	chr4:7966400-7967600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr4:7966400-7967600	Flanking Active TSS	Hela-S3	cervix
46	chr4:7966400-7967800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:7966400-7967800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:7966400-7967800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr4:7966400-7967800	Enhancers	Fetal Lung	lung
50	chr4:7966400-7968000	Enhancers	Primary T helper cells fromperipheralblood	blood

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