Variant report

Variant	rs531824952
Chromosome Location	chr1:222791633-222791634
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	chr1:222639000..222642188-chr1:222791446..222794042,3	MCF-7	breast:
2	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
3	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
4	chr1:222790149..222792584-chr1:222885363..222887404,2	K562	blood:
5	chr1:222788058..222793799-chr1:222815102..222819462,10	K562	blood:
6	chr1:222790877..222794262-chr1:222817668..222820285,3	MCF-7	breast:
7	chr1:222789930..222793106-chr1:222884660..222888170,6	K562	blood:
8	chr1:222774712..222777472-chr1:222791624..222793384,2	MCF-7	breast:
9	chr1:222791535..222793360-chr17:57917674..57919496,2	MCF-7	breast:
10	chr1:222788934..222792471-chr1:222815936..222819007,5	MCF-7	breast:
11	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
12	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:
13	chr1:222789107..222793717-chr1:222814287..222819011,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000229399	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000234419	Chromatin interaction
ENSG00000143498	Chromatin interaction
ENSG00000162819	Chromatin interaction
ENSG00000225265	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv3325041	chr1:222790354-222793202	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 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	chr1:222790400-222792200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:222790400-222792200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:222790400-222792400	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:222790400-222792600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:222790400-222792600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:222790400-222792600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr1:222790400-222792800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr1:222790400-222792800	Active TSS	Ovary	ovary
9	chr1:222790400-222793000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:222790600-222792200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:222790600-222792200	Active TSS	Fetal Brain Female	brain
12	chr1:222790600-222792400	Active TSS	Brain Cingulate Gyrus	brain
13	chr1:222790600-222792400	Active TSS	Brain Substantia Nigra	brain
14	chr1:222790600-222792400	Active TSS	Placenta Amnion	Placenta Amnion
15	chr1:222790600-222792400	Active TSS	Right Ventricle	heart
16	chr1:222790600-222792600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:222790600-222792600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:222790600-222792600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:222790600-222792600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:222790600-222792600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:222790600-222792600	Active TSS	Aorta	Aorta
22	chr1:222790600-222792800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:222790600-222792800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:222790600-222792800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:222790600-222792800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:222790600-222792800	Active TSS	Fetal Kidney	kidney
27	chr1:222790600-222792800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:222790600-222793000	Active TSS	Pancreas	Pancrea
29	chr1:222790600-222793000	Active TSS	Right Atrium	heart
30	chr1:222790600-222793000	Active TSS	HSMMtube	muscle
31	chr1:222790600-222793200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr1:222790800-222792000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr1:222790800-222792000	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:222790800-222792000	Active TSS	Spleen	Spleen
35	chr1:222790800-222792200	Active TSS	Primary T cells from cord blood	blood
36	chr1:222790800-222792200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:222790800-222792200	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr1:222790800-222792200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:222790800-222792200	Active TSS	Brain Angular Gyrus	brain
40	chr1:222790800-222792200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:222790800-222792200	Active TSS	Rectal Smooth Muscle	rectum
42	chr1:222790800-222792200	Active TSS	Thymus	Thymus
43	chr1:222790800-222792200	Active TSS	Hela-S3	cervix
44	chr1:222790800-222792400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:222790800-222792400	Active TSS	Brain Anterior Caudate	brain
46	chr1:222790800-222792400	Active TSS	Esophagus	oesophagus
47	chr1:222790800-222792400	Active TSS	Left Ventricle	heart
48	chr1:222790800-222792400	Active TSS	Psoas Muscle	Psoas
49	chr1:222790800-222792400	Active TSS	Small Intestine	intestine
50	chr1:222790800-222792400	Active TSS	NHEK	skin

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