Variant report

Variant	esv2756108
Chromosome Location	chr3:144177836-144301659
allele	n/a
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:143691583..143692190-chr3:144216201..144216835,2	MCF-7	breast:
2	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
3	chr1:153580940..153582973-chr3:144219455..144221982,2	MCF-7	breast:
4	chr3:144231778..144234120-chr3:144234556..144237249,2	MCF-7	breast:
5	chr3:143690347..143692960-chr3:144205588..144207110,2	MCF-7	breast:
6	chr3:143688586..143691130-chr3:144236115..144237811,2	K562	blood:
7	chr3:144181073..144183804-chr3:144187176..144188852,2	K562	blood:
8	chr11:62609055..62609630-chr3:144293870..144294370,2	Hela-S3	cervix:
9	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
10	chr3:143689445..143692390-chr3:144295260..144296931,2	MCF-7	breast:
11	chr3:144181073..144183804-chr3:144187176..144188852,2	K562	blood:
12	chr3:144225017..144227933-chr3:144232798..144235168,2	MCF-7	breast:
13	chr3:144231778..144234120-chr3:144234556..144237249,2	MCF-7	breast:
14	chr3:144225017..144227933-chr3:144232798..144235168,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC9A9-2	chr3:144202378-144202999	refGeneNc_4352_NR_034032
2	lnc-C3orf58-6	chr3:144224851-144225242	expReg_chr3_9920_+

No data

Variant related genes	Relation type
ENSG00000133316	chromatin interactions
ENSG00000181744	chromatin interactions
ENSG00000188643	chromatin interactions

Extended variants
information (count: 3051 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3051 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12494918	chr3:144177836-144177837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373260059	chr3:144177911-144177912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376576247	chr3:144177912-144177913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550689892	chr3:144177937-144177938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189262856	chr3:144177952-144177953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562902479	chr3:144177960-144177961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530395772	chr3:144177996-144177997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548866660	chr3:144178026-144178027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139642952	chr3:144178042-144178043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201445442	chr3:144178043-144178044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370337008	chr3:144178053-144178054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180938008	chr3:144178108-144178109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115458036	chr3:144178137-144178138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534086364	chr3:144178194-144178195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10655161	chr3:144178208-144178209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369362882	chr3:144178209-144178210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200276534	chr3:144178210-144178211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397717683	chr3:144178211-144178212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552783944	chr3:144178235-144178236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141271106	chr3:144178260-144178261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373847974	chr3:144178277-144178278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146945909	chr3:144178289-144178290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7649969	chr3:144178332-144178333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186229939	chr3:144178433-144178434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535094608	chr3:144178459-144178460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574693753	chr3:144178476-144178477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200819358	chr3:144178511-144178512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191904422	chr3:144178541-144178542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150983904	chr3:144178573-144178574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545673975	chr3:144178588-144178589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140813574	chr3:144178600-144178601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577251458	chr3:144178605-144178606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544719696	chr3:144178609-144178610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562992091	chr3:144178610-144178611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182082414	chr3:144178624-144178625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554133756	chr3:144178631-144178632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186057404	chr3:144178654-144178655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190679305	chr3:144178689-144178690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150170562	chr3:144178692-144178693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552482535	chr3:144178712-144178713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571057092	chr3:144178715-144178716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538080677	chr3:144178740-144178741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549434114	chr3:144178778-144178779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551689866	chr3:144178844-144178845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182512142	chr3:144178848-144178849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569990471	chr3:144178854-144178855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535034418	chr3:144178886-144178887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553395249	chr3:144178890-144178891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565826571	chr3:144178894-144178895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540304781	chr3:144178898-144178899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144177400-144181000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:144177400-144181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:144181000-144181400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:144181000-144181400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:144181000-144181400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:144181000-144181400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:144181000-144181600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:144181200-144181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:144181400-144181800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:144181400-144185800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:144181400-144188400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:144181800-144183600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:144183600-144184000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:144184000-144184600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:144184600-144185000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:144185000-144185800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:144185800-144186000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:144185800-144186000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:144185800-144186400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr3:144186000-144186200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:144186000-144186400	Enhancers	Fetal Heart	heart
22	chr3:144186200-144186400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:144186400-144186600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:144186600-144187000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:144188200-144189000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:144188400-144188800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:144188400-144189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:144188400-144189000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:144188400-144189000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:144188400-144189000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:144188400-144189000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:144189000-144193000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:144189000-144193400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:144193000-144193800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:144193000-144194600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:144193200-144194000	Enhancers	Brain Hippocampus Middle	brain
37	chr3:144193400-144194600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr3:144193800-144196200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:144194600-144194800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:144196200-144197400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:144201400-144201800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:144201600-144201800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:144201600-144202000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr3:144201800-144202000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:144201800-144202200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr3:144201800-144202200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr3:144201800-144202400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr3:144201800-144202800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:144201800-144203400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:144201800-144203600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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