Variant report

Variant	rs482029
Chromosome Location	chr6:74325808-74325809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
2	chr6:74221668..74234853-chr6:74311080..74327130,62	K562	blood:

Variant related genes	Relation type
ENSG00000223967	Chromatin interaction
ENSG00000229862	Chromatin interaction
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16883930	1.00[EUR][1000 genomes]
rs16883994	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv886160	chr6:74305276-74341589	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74290600-74338800	Weak transcription	Ovary	ovary
2	chr6:74296200-74332000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:74296400-74354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:74296400-74354800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:74296400-74355000	Weak transcription	Fetal Brain Male	brain
6	chr6:74296600-74344000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:74296800-74334000	Weak transcription	Fetal Lung	lung
8	chr6:74297000-74361800	Weak transcription	GM12878-XiMat	blood
9	chr6:74303400-74355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:74307200-74362400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:74307600-74356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:74308000-74340200	Weak transcription	Brain Substantia Nigra	brain
13	chr6:74308400-74329000	Weak transcription	NHEK	skin
14	chr6:74311200-74355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:74312600-74332400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:74313200-74331800	Strong transcription	Fetal Muscle Leg	muscle
17	chr6:74313800-74331200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr6:74314200-74362800	Weak transcription	Stomach Mucosa	stomach
19	chr6:74314400-74346400	Weak transcription	Psoas Muscle	Psoas
20	chr6:74315000-74326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:74315200-74348800	Weak transcription	HMEC	breast
22	chr6:74315400-74345200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:74315600-74362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:74316200-74347000	Strong transcription	Fetal Intestine Small	intestine
25	chr6:74316400-74349200	Weak transcription	HUVEC	blood vessel
26	chr6:74316600-74355000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:74318400-74350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:74318400-74355000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:74318800-74355200	Weak transcription	Colonic Mucosa	Colon
30	chr6:74319000-74341200	Weak transcription	NH-A	brain
31	chr6:74319600-74354800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:74319800-74340000	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:74319800-74354800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:74320400-74340200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:74320600-74328600	Weak transcription	Hela-S3	cervix
36	chr6:74320800-74331200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:74320800-74341200	Weak transcription	Brain Angular Gyrus	brain
38	chr6:74321200-74329400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:74321200-74332000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:74321400-74331800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:74321800-74332400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr6:74322000-74326000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:74322000-74331200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr6:74322000-74332200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr6:74322800-74341200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:74323400-74326000	Strong transcription	HSMMtube	muscle
47	chr6:74323600-74326600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:74323600-74331800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:74324600-74362800	Weak transcription	Pancreas	Pancrea
50	chr6:74324800-74326400	Weak transcription	Right Ventricle	heart

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