Variant report

Variant	rs62399910
Chromosome Location	chr6:34347738-34347739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34342154..34345431-chr6:34346779..34350168,4	K562	blood:
2	chr6:34342605..34345308-chr6:34346623..34348686,2	MCF-7	breast:
3	chr6:34346665..34350255-chr6:34350707..34354463,4	MCF-7	breast:
4	chr6:34346965..34349809-chr6:34357029..34359430,2	MCF-7	breast:
5	chr6:34202333..34204420-chr6:34346794..34349148,2	K562	blood:
6	chr6:34339407..34341753-chr6:34346354..34347953,2	K562	blood:
7	chr6:34346901..34348598-chr6:34358897..34361393,2	K562	blood:

Variant related genes	Relation type
ENSG00000272325	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10452589	0.84[EUR][1000 genomes]
rs16889690	0.84[EUR][1000 genomes]
rs16889754	1.00[EUR][1000 genomes]
rs16889851	0.84[EUR][1000 genomes]
rs56022767	0.84[EUR][1000 genomes]
rs58525086	1.00[EUR][1000 genomes]
rs58837036	0.82[EUR][1000 genomes]
rs59368811	0.84[EUR][1000 genomes]
rs59657493	0.92[EUR][1000 genomes]
rs60208416	1.00[EUR][1000 genomes]
rs60708749	0.84[EUR][1000 genomes]
rs61618829	0.84[EUR][1000 genomes]
rs62399898	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62399912	0.84[EUR][1000 genomes]
rs62399914	0.84[EUR][1000 genomes]
rs62399917	0.84[EUR][1000 genomes]
rs62399919	1.00[EUR][1000 genomes]
rs62399946	1.00[EUR][1000 genomes]
rs62399947	1.00[EUR][1000 genomes]
rs6906664	0.84[EUR][1000 genomes]
rs73403930	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73403996	0.84[EUR][1000 genomes]
rs73405614	1.00[EUR][1000 genomes]
rs7741867	1.00[EUR][1000 genomes]
rs7742115	1.00[EUR][1000 genomes]
rs7760471	0.93[AFR][1000 genomes];1.00[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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1034978	chr6:34327526-34362187	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34315400-34351200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:34318200-34355800	Weak transcription	Brain Germinal Matrix	brain
3	chr6:34320400-34350400	Weak transcription	Esophagus	oesophagus
4	chr6:34327000-34351600	Weak transcription	Ovary	ovary
5	chr6:34327800-34356400	Weak transcription	Hela-S3	cervix
6	chr6:34328000-34351200	Weak transcription	Gastric	stomach
7	chr6:34328600-34358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:34329800-34351200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:34331000-34358400	Weak transcription	Aorta	Aorta
10	chr6:34331200-34351600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:34331400-34348600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:34331400-34351400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:34331400-34353400	Weak transcription	Small Intestine	intestine
14	chr6:34331400-34353600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:34331600-34351400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:34331600-34353600	Weak transcription	Fetal Intestine Large	intestine
17	chr6:34333600-34358000	Weak transcription	HMEC	breast
18	chr6:34334200-34350400	Weak transcription	Lung	lung
19	chr6:34334600-34348600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:34334600-34350400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:34335200-34354600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:34335600-34358800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:34337800-34359000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:34338000-34353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:34338200-34350000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:34338200-34351600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:34338200-34358600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:34338400-34351000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:34338400-34353600	Weak transcription	Pancreas	Pancrea
30	chr6:34338400-34356600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:34338600-34348200	Weak transcription	Dnd41	blood
32	chr6:34338600-34351200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:34338600-34351800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:34338800-34351400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:34339200-34351200	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:34339200-34358000	Weak transcription	NHEK	skin
37	chr6:34339400-34358000	Weak transcription	HUVEC	blood vessel
38	chr6:34340400-34358000	Weak transcription	Fetal Thymus	thymus
39	chr6:34341000-34351800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:34341600-34351200	Weak transcription	Right Atrium	heart
41	chr6:34342600-34348200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:34342600-34348600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:34342600-34351000	Weak transcription	Brain Angular Gyrus	brain
44	chr6:34342600-34351000	Weak transcription	Brain Anterior Caudate	brain
45	chr6:34342600-34351000	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:34342600-34351000	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:34342600-34351200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:34342600-34351200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr6:34342600-34351200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:34342600-34355800	Weak transcription	Fetal Brain Female	brain

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