Variant report

Variant	esv3450926
Chromosome Location	chr1:227146429-227149527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:227148809-227149005	K562	blood:	n/a	n/a
2	CBX3	chr1:227147800-227148305	K562	blood:	n/a	n/a
3	CTCF	chr1:227147713-227147898	GM19239	blood:	n/a	n/a
4	CTCF	chr1:227147768-227147777	ProgFib	skin:	n/a	n/a
5	CTCF	chr1:227147776-227147816	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:227147815-227147898	GM12892	blood:	n/a	n/a
7	CTCF	chr1:227147780-227147809	ProgFib	skin:	n/a	n/a
8	CTCF	chr1:227147825-227147835	ProgFib	skin:	n/a	n/a
9	CTCF	chr1:227147820-227147867	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:227148128-227148152	GM12892	blood:	n/a	n/a
11	CTCF	chr1:227147820-227147823	ProgFib	skin:	n/a	n/a
12	GTF2F1	chr1:227148748-227148752	K562	blood:	n/a	n/a
13	MAX	chr1:227148787-227149045	K562	blood:	n/a	n/a
14	POLR2A	chr1:227147883-227148325	HepG2	liver:	n/a	n/a
15	RUNX3	chr1:227148012-227148258	GM12878	blood:	n/a	n/a
16	STAT3	chr1:227146639-227146770	MCF10A-Er-Src	breast:	n/a	n/a
17	TAF1	chr1:227147626-227148336	HepG2	liver:	n/a	n/a
18	USF1	chr1:227148757-227149024	K562	blood:	n/a	n/a
19	WRNIP1	chr1:227146614-227146731	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227149071..227151411-chr1:227152108..227154621,2	K562	blood:
2	chr1:227134108..227135698-chr1:227147086..227148857,2	K562	blood:
3	chr1:227126954..227128546-chr1:227148554..227151462,2	MCF-7	breast:
4	chr1:227146674..227148732-chr1:227169923..227172116,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228525	TF binding region
ADCK3	TF binding region
ENSG00000163050	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12024326	chr1:227146433-227146434	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73087619	chr1:227146461-227146462	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192968282	chr1:227146519-227146520	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370081999	chr1:227146553-227146554	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569384804	chr1:227146578-227146579	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538363505	chr1:227146607-227146608	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs114037739	chr1:227146649-227146650	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs183768490	chr1:227146661-227146662	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs534410524	chr1:227146678-227146679	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554354199	chr1:227146763-227146764	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs16841298	chr1:227146768-227146769	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534281160	chr1:227146783-227146784	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555334949	chr1:227146910-227146911	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79615826	chr1:227146930-227146931	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148321175	chr1:227146931-227146932	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534356606	chr1:227146932-227146933	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554369191	chr1:227146943-227146944	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141429857	chr1:227146977-227146978	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150823913	chr1:227147024-227147025	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559524440	chr1:227147067-227147068	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529818213	chr1:227147095-227147096	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs74258787	chr1:227147133-227147134	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375805259	chr1:227147173-227147174	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541994485	chr1:227147202-227147203	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563273519	chr1:227147209-227147210	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530712021	chr1:227147217-227147218	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77260295	chr1:227147270-227147271	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139415695	chr1:227147298-227147299	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116414588	chr1:227147315-227147316	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs117267700	chr1:227147317-227147318	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546344088	chr1:227147353-227147354	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574252263	chr1:227147363-227147364	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543176740	chr1:227147407-227147408	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568131253	chr1:227147414-227147415	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536472769	chr1:227147424-227147425	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562954227	chr1:227147435-227147436	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572556844	chr1:227147489-227147490	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570400340	chr1:227147510-227147511	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145611287	chr1:227147537-227147538	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112100472	chr1:227147544-227147545	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577143733	chr1:227147616-227147617	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541533039	chr1:227147647-227147648	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs553227948	chr1:227147688-227147689	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574856463	chr1:227147700-227147701	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs200967477	chr1:227147717-227147718	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs112951875	chr1:227147741-227147742	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373332825	chr1:227147743-227147744	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200486849	chr1:227147744-227147745	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs202164570	chr1:227147753-227147754	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201154065	chr1:227147757-227147758	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227129000-227162600	Weak transcription	Fetal Kidney	kidney
2	chr1:227130400-227154600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:227131000-227171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:227131400-227153800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:227131800-227147200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:227133200-227149800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:227134400-227151800	Weak transcription	Small Intestine	intestine
8	chr1:227134400-227153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:227134600-227150200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:227134800-227149000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:227134800-227150200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:227135000-227150600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:227135200-227149800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:227135200-227152600	Weak transcription	Colonic Mucosa	Colon
15	chr1:227135200-227158000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:227135400-227146800	Weak transcription	Stomach Mucosa	stomach
17	chr1:227136200-227152800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:227136400-227146600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:227136400-227149200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:227137400-227150400	Weak transcription	Aorta	Aorta
21	chr1:227137800-227146600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:227138000-227149000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:227138000-227152000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:227138400-227147800	Weak transcription	Primary T cells from cord blood	blood
25	chr1:227139200-227151600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:227139400-227149800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:227139400-227150600	Weak transcription	Primary B cells from cord blood	blood
28	chr1:227140000-227150200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:227140000-227152200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:227140000-227152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:227140000-227153000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:227141400-227149600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:227142200-227157800	Weak transcription	Fetal Lung	lung
34	chr1:227142400-227149200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:227142800-227148600	Weak transcription	Ovary	ovary
36	chr1:227142800-227149400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:227142800-227152200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:227143000-227147400	Weak transcription	Lung	lung
39	chr1:227143000-227148000	Weak transcription	HepG2	liver
40	chr1:227143000-227149400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:227143000-227153800	Weak transcription	Hela-S3	cervix
42	chr1:227143400-227146600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:227143400-227150000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:227143400-227161200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:227144000-227148400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:227144600-227148800	Enhancers	Pancreas	Pancrea
47	chr1:227144800-227149600	Enhancers	Psoas Muscle	Psoas
48	chr1:227145200-227146600	Enhancers	Liver	Liver
49	chr1:227145400-227146600	Strong transcription	Fetal Intestine Small	intestine
50	chr1:227145400-227159600	Weak transcription	Brain Substantia Nigra	brain

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