Variant report

Variant	rs6812597
Chromosome Location	chr4:99468038-99468039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99463140..99464695-chr4:99465921..99468144,2	K562	blood:
2	chr4:99465722..99468319-chr4:99566226..99568875,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17191936	0.83[ASN][1000 genomes]
rs17192060	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2091547	0.88[ASN][1000 genomes]
rs7668981	0.88[ASN][1000 genomes]
rs7695093	0.92[ASN][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	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99459200-99479600	Weak transcription	Spleen	Spleen
2	chr4:99463800-99478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:99465000-99468400	Enhancers	Fetal Brain Male	brain
4	chr4:99466400-99477000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:99466600-99479800	Weak transcription	Fetal Thymus	thymus
6	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:99467400-99468200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:99467600-99468200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:99467600-99468400	Active TSS	NHDF-Ad	bronchial
10	chr4:99467600-99468600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr4:99467600-99468800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:99467600-99468800	Active TSS	Stomach Smooth Muscle	stomach
13	chr4:99467800-99468200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:99467800-99468200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:99467800-99468200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:99467800-99468200	Active TSS	Brain Substantia Nigra	brain
17	chr4:99467800-99468200	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr4:99467800-99468400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:99467800-99468400	Enhancers	Fetal Heart	heart
20	chr4:99467800-99468400	Active TSS	Right Ventricle	heart
21	chr4:99467800-99468400	Flanking Active TSS	HMEC	breast
22	chr4:99467800-99468600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:99467800-99468600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:99467800-99468600	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr4:99467800-99468600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr4:99467800-99468600	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr4:99467800-99468600	Active TSS	Right Atrium	heart
28	chr4:99467800-99468600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr4:99467800-99468600	Active TSS	HSMMtube	muscle
30	chr4:99467800-99468800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr4:99467800-99468800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr4:99467800-99468800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:99467800-99468800	Active TSS	Aorta	Aorta
34	chr4:99467800-99468800	Active TSS	Brain Angular Gyrus	brain
35	chr4:99467800-99468800	Active TSS	Brain Anterior Caudate	brain
36	chr4:99467800-99468800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr4:99467800-99468800	Flanking Active TSS	Fetal Brain Female	brain
38	chr4:99467800-99468800	Active TSS	Ovary	ovary
39	chr4:99467800-99468800	Active TSS	NHLF	lung
40	chr4:99467800-99469000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:99468000-99468400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr4:99468000-99468400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:99468000-99468400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:99468000-99468400	Active TSS	Brain Hippocampus Middle	brain
45	chr4:99468000-99468400	Active TSS	Colon Smooth Muscle	Colon
46	chr4:99468000-99468400	Active TSS	Duodenum Mucosa	Duodenum
47	chr4:99468000-99468400	Enhancers	Esophagus	oesophagus
48	chr4:99468000-99468400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr4:99468000-99468400	Active TSS	Fetal Intestine Large	intestine
50	chr4:99468000-99468400	Flanking Active TSS	Left Ventricle	heart

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