Variant report

Variant	rs73554467
Chromosome Location	chr6:133139635-133139636
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:133139023..133140882-chr6:133238687..133240373,2	MCF-7	breast:
2	chr6:132935279..132937061-chr6:133139072..133141964,2	K562	blood:
3	chr6:133139552..133142163-chr6:133253017..133254972,3	K562	blood:
4	chr6:132832857..132835191-chr6:133139455..133141127,3	K562	blood:
5	chr6:133139209..133141849-chr6:133290608..133292386,2	MCF-7	breast:
6	chr6:133139056..133141484-chr6:133198427..133200409,2	MCF-7	breast:
7	chr6:132893374..132895125-chr6:133139533..133141338,2	K562	blood:
8	chr19:12885475..12887158-chr6:133138358..133141147,2	K562	blood:
9	chr17:40214097..40215598-chr6:133136759..133139699,2	K562	blood:
10	chr6:132832873..132835191-chr6:133139473..133141127,2	K562	blood:
11	chr6:133139563..133143378-chr6:133869645..133873437,4	K562	blood:
12	chr6:132855902..132859597-chr6:133135974..133139810,3	K562	blood:
13	chr6:133139428..133141767-chr6:133455373..133456926,2	K562	blood:
14	chr6:133139605..133142425-chr6:133167716..133170536,3	MCF-7	breast:
15	chr6:133139130..133141825-chr6:133875719..133879392,4	MCF-7	breast:
16	chr6:133139381..133142834-chr6:134271951..134274965,4	K562	blood:
17	chr1:149223494..149225494-chr6:133139275..133142169,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000028839	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000237110	Chromatin interaction
ENSG00000187595	Chromatin interaction
ENSG00000095066	Chromatin interaction
ENSG00000079950	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2327284	1.00[EUR][1000 genomes]
rs35121891	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56786581	1.00[EUR][1000 genomes]
rs56830698	1.00[EUR][1000 genomes]
rs57172226	1.00[EUR][1000 genomes]
rs57212631	1.00[EUR][1000 genomes]
rs57903874	1.00[EUR][1000 genomes]
rs58591697	1.00[EUR][1000 genomes]
rs58644652	1.00[EUR][1000 genomes]
rs58940825	1.00[EUR][1000 genomes]
rs58994969	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59585087	1.00[EUR][1000 genomes]
rs59597300	1.00[EUR][1000 genomes]
rs60264875	1.00[EUR][1000 genomes]
rs61033120	1.00[EUR][1000 genomes]
rs61244629	1.00[EUR][1000 genomes]
rs61292521	1.00[EUR][1000 genomes]
rs73545933	1.00[EUR][1000 genomes]
rs73545937	1.00[EUR][1000 genomes]
rs73545939	1.00[EUR][1000 genomes]
rs73545946	1.00[EUR][1000 genomes]
rs73545957	1.00[EUR][1000 genomes]
rs73547657	1.00[EUR][1000 genomes]
rs73550478	0.84[AFR][1000 genomes]
rs73558395	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133136000-133139800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:133136200-133140600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
3	chr6:133137200-133145400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:133137400-133141000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:133137400-133141000	Strong transcription	Aorta	Aorta
6	chr6:133137400-133141200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
7	chr6:133137400-133141400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr6:133137600-133140000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:133137600-133141200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:133137800-133140200	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr6:133137800-133140600	Strong transcription	Pancreas	Pancrea
12	chr6:133137800-133140800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:133137800-133141000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr6:133137800-133141200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:133137800-133141200	Strong transcription	Placenta	Placenta
16	chr6:133137800-133141400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:133137800-133141400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr6:133137800-133141600	Strong transcription	Fetal Thymus	thymus
19	chr6:133137800-133142200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:133137800-133142400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:133137800-133142400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr6:133137800-133143600	Weak transcription	Right Atrium	heart
23	chr6:133138000-133140200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:133138000-133140200	Strong transcription	Left Ventricle	heart
25	chr6:133138000-133140400	Weak transcription	Small Intestine	intestine
26	chr6:133138000-133140400	Genic enhancers	NHDF-Ad	bronchial
27	chr6:133138000-133140600	Strong transcription	Brain Angular Gyrus	brain
28	chr6:133138000-133140600	Strong transcription	Brain Hippocampus Middle	brain
29	chr6:133138000-133140800	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr6:133138000-133140800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:133138000-133140800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:133138000-133140800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:133138000-133140800	Strong transcription	Brain Substantia Nigra	brain
34	chr6:133138000-133141000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:133138000-133141000	Strong transcription	Brain Anterior Caudate	brain
36	chr6:133138000-133141000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr6:133138000-133141000	Strong transcription	Thymus	Thymus
38	chr6:133138000-133141200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:133138000-133141200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:133138000-133141200	Strong transcription	Liver	Liver
41	chr6:133138000-133141200	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr6:133138000-133141200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:133138000-133141400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:133138000-133141400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:133138000-133141400	Strong transcription	Colon Smooth Muscle	Colon
46	chr6:133138000-133141400	Strong transcription	Fetal Intestine Large	intestine
47	chr6:133138000-133141400	Strong transcription	Fetal Muscle Leg	muscle
48	chr6:133138000-133141600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr6:133138000-133141600	Strong transcription	Brain Cingulate Gyrus	brain
50	chr6:133138200-133140000	Genic enhancers	NHEK	skin

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