Variant report

Variant	rs1261917
Chromosome Location	chr4:75029461-75029462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75010641..75013526-chr4:75028499..75030027,2	K562	blood:
2	chr4:75026936..75029499-chr4:75048728..75050927,2	K562	blood:
3	chr4:75028000..75030668-chr4:75031442..75033767,3	MCF-7	breast:
4	chr4:75023724..75025558-chr4:75028455..75031389,3	MCF-7	breast:
5	chr4:75023931..75025706-chr4:75026268..75029648,3	MCF-7	breast:
6	chr4:75029092..75030638-chr4:75098304..75099912,2	K562	blood:
7	chr15:25139573..25141078-chr4:75029307..75031542,2	K562	blood:

Variant related genes	Relation type
ENSG00000163738	Chromatin interaction
ENSG00000269559	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10938110	0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs474734	0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs479117	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs507061	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs522698	0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs536780	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs552357	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs569187	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs569206	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6841682	0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75024400-75032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:75024600-75030400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:75024600-75034000	Weak transcription	Gastric	stomach
4	chr4:75024800-75032000	Weak transcription	Placenta	Placenta
5	chr4:75024800-75032400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:75024800-75032600	Weak transcription	Lung	lung
7	chr4:75024800-75033800	Weak transcription	Esophagus	oesophagus
8	chr4:75024800-75033800	Weak transcription	Stomach Mucosa	stomach
9	chr4:75024800-75034400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:75024800-75037000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:75024800-75056600	Weak transcription	Pancreas	Pancrea
12	chr4:75024800-75080600	Weak transcription	Left Ventricle	heart
13	chr4:75025000-75032400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:75025000-75033600	Weak transcription	Fetal Stomach	stomach
15	chr4:75025000-75034000	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:75025000-75046800	Weak transcription	NHDF-Ad	bronchial
17	chr4:75025200-75032400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:75025200-75041800	Weak transcription	Aorta	Aorta
19	chr4:75025200-75042600	Weak transcription	Brain Substantia Nigra	brain
20	chr4:75025400-75031400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:75025400-75032000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:75025400-75032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:75025400-75032800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:75025400-75034400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:75025400-75035000	Weak transcription	NHLF	lung
26	chr4:75025400-75067600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:75025400-75073600	Weak transcription	Right Ventricle	heart
28	chr4:75025600-75031600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:75025600-75054200	Weak transcription	Ovary	ovary
30	chr4:75025600-75067600	Weak transcription	Thymus	Thymus
31	chr4:75025800-75029600	Weak transcription	Fetal Intestine Large	intestine
32	chr4:75025800-75030800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:75025800-75032000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:75025800-75032400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:75025800-75032400	Weak transcription	Spleen	Spleen
36	chr4:75025800-75034400	Weak transcription	Fetal Intestine Small	intestine
37	chr4:75025800-75049200	Weak transcription	Psoas Muscle	Psoas
38	chr4:75026400-75030600	Strong transcription	HMEC	breast
39	chr4:75026800-75030800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:75026800-75030800	Strong transcription	Dnd41	blood
41	chr4:75026800-75034800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:75026800-75049200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:75027200-75031800	Weak transcription	HUVEC	blood vessel
44	chr4:75027200-75032600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:75027200-75044400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:75027600-75031800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:75027600-75046600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:75027800-75033800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:75027800-75049200	Weak transcription	Adipose Nuclei	Adipose
50	chr4:75027800-75054600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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