Variant report

Variant	rs7449594
Chromosome Location	chr6:166774429-166774430
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:166751664..166755250-chr6:166772904..166776274,3	K562	blood:
2	chr6:166771550..166776527-chr6:166791729..166798170,6	K562	blood:
3	chr6:166766476..166768497-chr6:166772970..166774589,2	K562	blood:

Variant related genes	Relation type
ENSG00000060762	Chromatin interaction
ENSG00000261420	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1569461	0.80[EUR][1000 genomes]
rs1610311	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2343591	0.80[EUR][1000 genomes]
rs3734605	0.80[EUR][1000 genomes]
rs4305699	0.82[EUR][1000 genomes]
rs6456078	0.81[EUR][1000 genomes]
rs6456079	0.80[EUR][1000 genomes]
rs6905635	0.80[EUR][1000 genomes]
rs6912695	0.82[EUR][1000 genomes]
rs6928141	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73033757	1.00[ASN][1000 genomes]
rs7744743	0.82[EUR][1000 genomes]
rs9348123	0.82[EUR][1000 genomes]
rs9355574	0.83[EUR][1000 genomes]
rs9364845	0.81[EUR][1000 genomes]
rs9366009	0.81[EUR][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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv1797072	chr6:166766142-166782143	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166757000-166779200	Weak transcription	Right Atrium	heart
2	chr6:166765600-166776400	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:166765600-166777000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:166765800-166776200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:166765800-166776200	Weak transcription	Brain Substantia Nigra	brain
6	chr6:166765800-166776600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:166765800-166778000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:166766800-166774600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:166766800-166776400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:166768800-166774600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:166769400-166775600	Weak transcription	Pancreas	Pancrea
12	chr6:166769400-166776600	Weak transcription	Gastric	stomach
13	chr6:166769400-166777800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:166770200-166776200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:166771000-166776600	Weak transcription	GM12878-XiMat	blood
16	chr6:166771400-166776600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:166771600-166776400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:166772000-166776200	Weak transcription	Thymus	Thymus
19	chr6:166772000-166776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:166772000-166776400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:166772400-166775600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:166772600-166775600	Weak transcription	Fetal Stomach	stomach
23	chr6:166772800-166776200	Weak transcription	Fetal Lung	lung
24	chr6:166772800-166776400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:166773000-166776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:166773000-166776400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:166773000-166776400	Weak transcription	Right Ventricle	heart
28	chr6:166773200-166776200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:166773200-166776200	Weak transcription	Fetal Intestine Small	intestine
30	chr6:166773200-166776400	Weak transcription	Brain Angular Gyrus	brain
31	chr6:166773200-166776400	Weak transcription	Brain Germinal Matrix	brain
32	chr6:166773200-166776400	Weak transcription	Fetal Intestine Large	intestine
33	chr6:166773200-166794600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:166773400-166775200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr6:166773400-166776600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:166773400-166776600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:166773400-166790000	Weak transcription	Fetal Brain Male	brain
38	chr6:166773600-166776800	Weak transcription	Dnd41	blood
39	chr6:166773800-166774600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:166773800-166774600	Flanking Active TSS	HepG2	liver
41	chr6:166773800-166774600	Flanking Active TSS	HSMMtube	muscle
42	chr6:166773800-166774800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:166773800-166774800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr6:166773800-166774800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:166773800-166774800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr6:166773800-166775000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:166773800-166775000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:166773800-166775000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:166773800-166775000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:166773800-166775000	Enhancers	Primary monocytes fromperipheralblood	blood

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