Variant report

Variant	rs28385633
Chromosome Location	chr6:161418279-161418280
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161417175..161419433-chr6:161431394..161434552,3	K562	blood:
2	chr6:161410042..161415394-chr6:161415769..161420242,7	MCF-7	breast:
3	chr6:161416864..161418683-chr6:161425882..161428622,2	K562	blood:

Variant related genes	Relation type
ENSG00000272841	Chromatin interaction
ENSG00000085511	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13204034	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468	1.00[ASN][1000 genomes]
rs35292081	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798906	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56352939	0.83[AFR][1000 genomes]
rs6925141	1.00[ASN][1000 genomes]
rs71565784	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71565785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73784705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73784713	0.89[AFR][1000 genomes]
rs73784721	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161413800-161432000	Weak transcription	Aorta	Aorta
2	chr6:161413800-161433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:161414000-161422400	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:161414000-161430800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:161414000-161432000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:161414200-161419000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:161414200-161420400	Weak transcription	Thymus	Thymus
8	chr6:161414200-161421400	Weak transcription	Brain Anterior Caudate	brain
9	chr6:161414200-161422400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:161414200-161422400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:161414200-161422400	Weak transcription	A549	lung
12	chr6:161414200-161422600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:161414200-161422600	Weak transcription	Fetal Kidney	kidney
14	chr6:161414200-161422600	Weak transcription	Stomach Mucosa	stomach
15	chr6:161414200-161431600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:161414200-161431600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:161414200-161458200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:161414400-161422400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:161414400-161422400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:161414400-161469600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:161414600-161422600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:161414600-161422800	Weak transcription	Fetal Heart	heart
23	chr6:161414600-161432800	Weak transcription	Fetal Stomach	stomach
24	chr6:161414600-161442600	Weak transcription	Primary B cells from cord blood	blood
25	chr6:161414600-161457400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:161414800-161419000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:161414800-161419000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:161414800-161419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:161414800-161419800	Weak transcription	Fetal Lung	lung
30	chr6:161414800-161420000	Weak transcription	Primary T cells from cord blood	blood
31	chr6:161414800-161420600	Weak transcription	Liver	Liver
32	chr6:161414800-161422400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:161414800-161422600	Weak transcription	Hela-S3	cervix
34	chr6:161415400-161422400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr6:161415600-161422600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:161415600-161427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:161415600-161450000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:161416000-161421200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:161416600-161420600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:161416600-161420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:161416600-161422600	Weak transcription	Fetal Intestine Large	intestine
42	chr6:161416600-161475200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:161416800-161420800	Weak transcription	HepG2	liver
44	chr6:161416800-161422600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:161416800-161436200	Weak transcription	Fetal Intestine Small	intestine
46	chr6:161417200-161418800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr6:161417400-161418400	Enhancers	Fetal Brain Female	brain
48	chr6:161417400-161421000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:161417400-161422400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:161417400-161422400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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