Variant report

Variant	rs9470356
Chromosome Location	chr6:36609718-36609719
allele	A/C
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	NFIC	chr6:36609313-36609742	HepG2	liver:	n/a	n/a
2	SP1	chr6:36609277-36609745	HepG2	liver:	n/a	n/a
3	MYBL2	chr6:36609206-36609729	HepG2	liver:	n/a	n/a
4	HNF4G	chr6:36609309-36609780	HepG2	liver:	n/a	chr6:36609530-36609542 chr6:36609530-36609542 chr6:36609529-36609544 chr6:36609530-36609543 chr6:36609510-36609522 chr6:36609507-36609522 chr6:36609530-36609542 chr6:36609530-36609542 chr6:36609569-36609581

No.	Distal block	Cell Line	Cell type
1	chr6:36609340..36611035-chr6:36617549..36619389,2	K562	blood:
2	chr6:36609545..36611321-chr6:36645281..36647113,2	MCF-7	breast:
3	chr6:36609486..36615115-chr6:36644680..36648006,7	MCF-7	breast:
4	chr6:36603118..36604685-chr6:36609380..36611034,2	MCF-7	breast:
5	chr6:36608940..36611586-chr6:36633683..36636371,2	MCF-7	breast:

Variant related genes	Relation type
RNU1-88P	TF binding region
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4714013	1.00[YRI][hapmap]
rs7738308	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7754099	1.00[YRI][hapmap]
rs9296186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470346	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9470347	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9470348	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9470369	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36582800-36610800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:36602400-36610600	Weak transcription	Fetal Heart	heart
3	chr6:36602400-36610800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:36602400-36610800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:36602400-36611000	Weak transcription	Right Atrium	heart
6	chr6:36602600-36610400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:36602800-36610400	Weak transcription	Osteobl	bone
8	chr6:36603000-36612800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:36603400-36611000	Weak transcription	Adipose Nuclei	Adipose
10	chr6:36605000-36610600	Weak transcription	Stomach Mucosa	stomach
11	chr6:36605200-36610600	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:36605400-36611200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:36605600-36610400	Weak transcription	Ovary	ovary
14	chr6:36605600-36611400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:36605800-36610400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:36605800-36610400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:36605800-36610800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:36605800-36610800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:36605800-36610800	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:36605800-36611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:36605800-36611000	Weak transcription	Fetal Stomach	stomach
22	chr6:36607200-36610800	Weak transcription	Pancreas	Pancrea
23	chr6:36608600-36612600	Enhancers	Fetal Intestine Small	intestine
24	chr6:36608800-36610000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:36608800-36610400	Enhancers	HepG2	liver
26	chr6:36608800-36611800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr6:36608800-36612200	Enhancers	Liver	Liver
28	chr6:36608800-36612600	Enhancers	Fetal Intestine Large	intestine
29	chr6:36608800-36613000	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:36609000-36609800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:36609000-36609800	Weak transcription	Small Intestine	intestine
32	chr6:36609000-36610400	Enhancers	Hela-S3	cervix
33	chr6:36609000-36611200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr6:36609000-36613000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:36609400-36610400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:36609400-36610400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:36609400-36610400	Weak transcription	Colonic Mucosa	Colon
38	chr6:36609400-36610400	Weak transcription	A549	lung
39	chr6:36609400-36610400	Weak transcription	HMEC	breast
40	chr6:36609600-36610600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:36609600-36610600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:36609600-36610800	Weak transcription	Spleen	Spleen
43	chr6:36609600-36611000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:36609600-36612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:36609600-36617000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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