Variant report

Variant	rs6702446
Chromosome Location	chr1:225663311-225663312
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225660989..225663497-chr1:226070471..226072090,2	K562	blood:
2	chr1:225661061..225665257-chr1:226163112..226166318,3	K562	blood:
3	chr1:225662710..225663336-chr1:226154888..226155470,2	MCF-7	breast:
4	chr1:225662226..225663837-chr1:226162713..226165257,2	K562	blood:
5	chr1:225662402..225663343-chr1:226032820..226034152,12	MCF-7	breast:
6	chr1:225662746..225665144-chr1:225672666..225674544,2	MCF-7	breast:
7	chr1:225662400..225663321-chr1:225843274..225843784,2	K562	blood:
8	chr1:225662326..225663674-chr1:226098265..226099949,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243709	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11808089	1.00[ASN][1000 genomes]
rs57616580	1.00[ASN][1000 genomes]
rs58221350	1.00[ASN][1000 genomes]
rs58384340	1.00[ASN][1000 genomes]
rs59481688	1.00[ASN][1000 genomes]
rs60271197	1.00[ASN][1000 genomes]
rs60588592	1.00[ASN][1000 genomes]
rs6426081	1.00[ASN][1000 genomes]
rs6666276	1.00[ASN][1000 genomes]
rs6687947	1.00[ASN][1000 genomes]
rs6696683	1.00[ASN][1000 genomes]
rs6698989	1.00[ASN][1000 genomes]
rs73124025	1.00[ASN][1000 genomes]
rs73125705	1.00[ASN][1000 genomes]
rs73125706	1.00[ASN][1000 genomes]
rs7515673	1.00[ASN][1000 genomes]
rs7531033	1.00[ASN][1000 genomes]
rs7555097	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873227	chr1:225656388-225687981	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv8880	chr1:225656408-225687710	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv826842	chr1:225658062-225686586	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv441740	chr1:225659217-225684196	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225655600-225677000	Weak transcription	Right Atrium	heart
2	chr1:225660600-225666200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:225660800-225663400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:225660800-225666200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:225660800-225666200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:225660800-225666800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:225661000-225666200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:225661000-225666200	Enhancers	Fetal Thymus	thymus
9	chr1:225661200-225663400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:225661600-225663800	Weak transcription	Primary T cells from cord blood	blood
11	chr1:225662000-225663400	Enhancers	Gastric	stomach
12	chr1:225662000-225663400	Enhancers	Lung	lung
13	chr1:225662000-225667000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:225662200-225671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:225662400-225663400	Enhancers	Primary B cells from cord blood	blood
16	chr1:225662400-225663400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:225662400-225663400	Enhancers	Esophagus	oesophagus
18	chr1:225662400-225663400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:225662400-225663400	Enhancers	Fetal Brain Male	brain
20	chr1:225662400-225663400	Enhancers	Fetal Intestine Small	intestine
21	chr1:225662400-225663400	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:225662400-225663400	Enhancers	Placenta	Placenta
23	chr1:225662400-225663400	Enhancers	A549	lung
24	chr1:225662400-225663600	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:225662400-225665000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:225662600-225663400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:225662600-225663400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr1:225662600-225671800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:225662800-225663400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:225662800-225663400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:225663000-225663400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:225663000-225663400	Enhancers	Psoas Muscle	Psoas
33	chr1:225663000-225663400	Enhancers	Right Ventricle	heart
34	chr1:225663000-225663400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:225663000-225663400	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr1:225663000-225663400	Enhancers	HMEC	breast
37	chr1:225663000-225665400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:225663200-225663400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:225663200-225663400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:225663200-225663400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:225663200-225663400	Enhancers	Brain Germinal Matrix	brain
42	chr1:225663200-225663400	Enhancers	Brain Substantia Nigra	brain
43	chr1:225663200-225663400	Enhancers	Colonic Mucosa	Colon
44	chr1:225663200-225663400	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:225663200-225663400	Enhancers	Fetal Brain Female	brain
46	chr1:225663200-225663400	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:225663200-225663400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:225663200-225663400	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:225663200-225663400	Active TSS	Hela-S3	cervix
50	chr1:225663200-225664000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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