Variant report

Variant	rs629130
Chromosome Location	chr6:36513478-36513479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36511832..36520020-chr6:36560637..36566762,23	K562	blood:
2	chr6:36511392..36518322-chr6:36560440..36567216,21	MCF-7	breast:
3	chr6:36510774..36513528-chr6:36514327..36515918,2	MCF-7	breast:
4	chr6:36408851..36410684-chr6:36512554..36515336,3	K562	blood:
5	chr6:36511879..36517279-chr6:36558264..36566013,19	MCF-7	breast:
6	chr6:36513256..36514925-chr6:36570218..36572859,3	K562	blood:
7	chr6:36513370..36515088-chr6:36555840..36557941,2	MCF-7	breast:
8	chr6:36389979..36392367-chr6:36513039..36514826,2	MCF-7	breast:
9	chr6:36512892..36514638-chr6:36529492..36532475,2	K562	blood:
10	chr6:36510007..36526277-chr6:36558145..36566762,35	K562	blood:
11	chr6:36511702..36513578-chr6:36513604..36515650,2	MCF-7	breast:
12	chr6:36409344..36412329-chr6:36513269..36516052,4	MCF-7	breast:
13	chr6:36513256..36515069-chr6:36571359..36573828,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112079	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000179165	Chromatin interaction
ENSG00000112078	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1233079	0.86[AFR][1000 genomes]
rs586036	1.00[AFR][1000 genomes]
rs597353	1.00[AFR][1000 genomes]
rs612988	1.00[AFR][1000 genomes]
rs666757	1.00[AFR][1000 genomes]
rs668606	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv5260	chr6:36471464-36516119	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36463800-36513600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:36478400-36513600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:36478400-36514000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:36479600-36514400	Weak transcription	Spleen	Spleen
5	chr6:36484600-36514000	Weak transcription	Pancreas	Pancrea
6	chr6:36488800-36513800	Weak transcription	Aorta	Aorta
7	chr6:36492400-36514000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:36496200-36514200	Weak transcription	Gastric	stomach
9	chr6:36500000-36514000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:36508000-36513600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:36508000-36513600	Weak transcription	Brain Substantia Nigra	brain
12	chr6:36508200-36513600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:36508400-36513600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:36508600-36513600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:36508800-36513800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:36509000-36514000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:36509200-36513800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:36510600-36514200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr6:36511200-36513800	Enhancers	Stomach Mucosa	stomach
20	chr6:36511200-36514200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr6:36511600-36513800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:36511600-36514800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:36511800-36513600	Enhancers	Fetal Brain Male	brain
24	chr6:36512000-36513600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:36512000-36513600	Enhancers	Fetal Lung	lung
26	chr6:36512000-36513600	Enhancers	NHEK	skin
27	chr6:36512000-36513800	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr6:36512200-36513600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:36512200-36513600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr6:36512200-36513800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:36512400-36513600	Weak transcription	Fetal Kidney	kidney
32	chr6:36512400-36513800	Enhancers	Placenta	Placenta
33	chr6:36512400-36513800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:36512400-36514000	Weak transcription	Ovary	ovary
35	chr6:36512600-36513600	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr6:36512600-36513600	Weak transcription	Colonic Mucosa	Colon
37	chr6:36512600-36514000	Weak transcription	Esophagus	oesophagus
38	chr6:36512600-36515400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:36512600-36515600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:36512800-36513600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:36512800-36513600	Enhancers	HepG2	liver
42	chr6:36512800-36514000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:36512800-36514000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:36512800-36514200	Flanking Active TSS	Dnd41	blood
45	chr6:36512800-36515200	Active TSS	Primary T cells from cord blood	blood
46	chr6:36512800-36515400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:36512800-36515400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr6:36512800-36515400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr6:36512800-36515400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr6:36512800-36515400	Active TSS	NHLF	lung

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