Variant report

Variant	rs57420421
Chromosome Location	chr6:36214675-36214676
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36204203..36205882-chr6:36212331..36215072,2	K562	blood:
2	chr6:36213671..36216100-chr6:36216931..36218929,2	MCF-7	breast:
3	chr6:36213425..36216034-chr6:36561862..36563369,2	K562	blood:
4	chr6:36213968..36216099-chr6:36236574..36239283,2	MCF-7	breast:
5	chr6:36100003..36101717-chr6:36213418..36216121,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180316	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56306008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57747046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58707214	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59374232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59752650	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61105253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61337522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905700	0.83[EUR][1000 genomes]
rs73413679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413691	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415509	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415510	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415528	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770696	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36199800-36216200	Weak transcription	NHLF	lung
2	chr6:36201200-36215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:36201400-36215600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:36201400-36216600	Weak transcription	Aorta	Aorta
5	chr6:36201600-36214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:36201600-36214800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:36201800-36215400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:36203800-36215400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:36203800-36220200	Weak transcription	Right Atrium	heart
10	chr6:36204400-36215200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:36204600-36215800	Weak transcription	Fetal Brain Female	brain
12	chr6:36209200-36218200	Enhancers	Fetal Intestine Small	intestine
13	chr6:36210000-36216600	Weak transcription	Fetal Stomach	stomach
14	chr6:36211000-36215200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:36211000-36216000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:36211200-36218200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:36211400-36215000	Enhancers	Spleen	Spleen
18	chr6:36212000-36215000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:36212200-36218200	Enhancers	Fetal Intestine Large	intestine
20	chr6:36212400-36215200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:36212400-36215200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:36212600-36217000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:36212800-36215600	Enhancers	Fetal Muscle Leg	muscle
24	chr6:36213200-36216200	Enhancers	Primary B cells from cord blood	blood
25	chr6:36213200-36217000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:36213400-36214800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:36213400-36215000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:36213400-36215200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:36213400-36216200	Enhancers	Fetal Thymus	thymus
30	chr6:36213600-36215000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:36213600-36215200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:36213600-36215200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:36213600-36215200	Enhancers	HepG2	liver
34	chr6:36213600-36216800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr6:36213800-36215000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:36213800-36215200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:36213800-36215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:36214000-36214800	Weak transcription	Colonic Mucosa	Colon
39	chr6:36214000-36215000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr6:36214000-36215200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:36214000-36215200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:36214000-36215200	Weak transcription	Stomach Mucosa	stomach
43	chr6:36214000-36215600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:36214000-36215600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:36214400-36215000	Enhancers	HMEC	breast
46	chr6:36214400-36215800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:36214400-36216200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:36214600-36214800	Enhancers	Hela-S3	cervix
49	chr6:36214600-36215400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:36214600-36215600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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