Variant report

Variant	rs527327111
Chromosome Location	chr1:93201014-93201015
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93199006..93201048-chr1:93203256..93205414,2	K562	blood:
2	chr1:93165186..93167884-chr1:93200897..93202411,2	K562	blood:

Variant related genes	Relation type
ENSG00000201317	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv997898	chr1:93167128-93228156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic 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	51 gene(s)	inside rSNPs	diseases
4	esv3340706	chr1:93187980-93207933	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3411328	chr1:93200439-93202512	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3404666	chr1:93200814-93202012	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93098400-93205400	Weak transcription	NHLF	lung
2	chr1:93123600-93213400	Weak transcription	Gastric	stomach
3	chr1:93155800-93213400	Weak transcription	Lung	lung
4	chr1:93174400-93202000	Weak transcription	Fetal Heart	heart
5	chr1:93186600-93205600	Weak transcription	Ovary	ovary
6	chr1:93186800-93213400	Weak transcription	K562	blood
7	chr1:93188400-93202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:93188400-93205400	Weak transcription	Small Intestine	intestine
9	chr1:93188600-93203800	Weak transcription	HMEC	breast
10	chr1:93189000-93203800	Weak transcription	Hela-S3	cervix
11	chr1:93189000-93213400	Weak transcription	Fetal Lung	lung
12	chr1:93189400-93204200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:93189400-93206000	Weak transcription	Brain Anterior Caudate	brain
14	chr1:93190000-93221800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:93190200-93220000	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:93191200-93221600	Weak transcription	Fetal Intestine Large	intestine
17	chr1:93192400-93221200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:93192400-93226400	Weak transcription	Esophagus	oesophagus
19	chr1:93193000-93203800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:93193000-93223800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:93193600-93213200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:93194600-93207400	Weak transcription	Osteobl	bone
23	chr1:93194600-93218000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:93195000-93201200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:93195000-93218000	Weak transcription	NHEK	skin
26	chr1:93196000-93202000	Weak transcription	Aorta	Aorta
27	chr1:93196200-93202400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:93196200-93203000	Weak transcription	HSMMtube	muscle
29	chr1:93196200-93213400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:93197600-93210800	Weak transcription	Placenta	Placenta
31	chr1:93198000-93204000	Weak transcription	HUVEC	blood vessel
32	chr1:93198000-93205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:93198200-93202600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:93198200-93205000	Weak transcription	Primary B cells from cord blood	blood
35	chr1:93198200-93209000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:93199000-93202400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:93199200-93202200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:93199400-93202600	Weak transcription	A549	lung
39	chr1:93199400-93204800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:93199600-93210600	Weak transcription	Fetal Stomach	stomach
41	chr1:93199600-93211200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:93199600-93211200	Weak transcription	Left Ventricle	heart
43	chr1:93199600-93212800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:93200000-93203200	Weak transcription	HepG2	liver
45	chr1:93200200-93207800	Weak transcription	Fetal Intestine Small	intestine
46	chr1:93200200-93224000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:93200600-93201200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:93200600-93201200	Strong transcription	HSMM	muscle
49	chr1:93201000-93203400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:93201000-93203600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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