Variant report

Variant	esv3474473
Chromosome Location	chr6:31192770-31194739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr6:31193853-31194184	GM12878	blood:	n/a	n/a
2	BCL3	chr6:31193764-31194173	GM12878	blood:	n/a	n/a
3	E2F6	chr6:31192506-31193237	H1-hESC	embryonic stem cell:	n/a	chr6:31192992-31193004
4	E2F6	chr6:31192791-31193210	H1-hESC	embryonic stem cell:	n/a	chr6:31192992-31193004
5	FOXA1	chr6:31193515-31193926	T-47D	breast:	n/a	n/a
6	FOXA1	chr6:31193504-31193822	T-47D	breast:	n/a	n/a
7	FOXA2	chr6:31193586-31193779	HepG2	liver:	n/a	n/a
8	GATA3	chr6:31193679-31194224	MCF-7	breast:	n/a	n/a
9	GATA3	chr6:31193518-31194205	T-47D	breast:	n/a	n/a
10	GATA3	chr6:31193513-31194205	T-47D	breast:	n/a	n/a
11	NFATC1	chr6:31193737-31194175	GM12878	blood:	n/a	n/a
12	PBX3	chr6:31193861-31194105	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31169209..31171865-chr6:31193364..31195422,2	K562	blood:

Variant related genes	Relation type
ENSG00000255899	TF binding region
ENSG00000206344	chromatin interactions
ENSG00000271821	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6904669	chr6:31192796-31192797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs6904670	chr6:31192797-31192798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs181418555	chr6:31192827-31192828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73728416	chr6:31192842-31192843	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6927444	chr6:31192847-31192848	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs58796429	chr6:31192860-31192861	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9263994	chr6:31192952-31192953	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4590261	chr6:31192963-31192964	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532935359	chr6:31192964-31192965	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs184111148	chr6:31192990-31192991	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs9468900	chr6:31192998-31192999	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs188537102	chr6:31193060-31193061	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs4373355	chr6:31193155-31193156	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs4455663	chr6:31193164-31193165	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556570645	chr6:31193167-31193168	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs4997405	chr6:31193211-31193212	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs531038380	chr6:31193239-31193240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367847110	chr6:31193240-31193241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4997406	chr6:31193255-31193256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554440327	chr6:31193256-31193257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9468901	chr6:31193269-31193270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185998437	chr6:31193293-31193294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370040019	chr6:31193294-31193295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528834346	chr6:31193318-31193319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4998467	chr6:31193325-31193326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4998468	chr6:31193333-31193334	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9263995	chr6:31193357-31193358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9263996	chr6:31193373-31193374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs9263999	chr6:31193382-31193383	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182216697	chr6:31193389-31193390	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs9264000	chr6:31193390-31193391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs202101669	chr6:31193399-31193400	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375458886	chr6:31193405-31193406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549217313	chr6:31193435-31193436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs543998558	chr6:31193438-31193439	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs567448285	chr6:31193466-31193467	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538208611	chr6:31193470-31193471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556298879	chr6:31193479-31193480	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs3130948	chr6:31193523-31193524	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
40	rs543920740	chr6:31193537-31193538	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs572631915	chr6:31193572-31193573	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs542857298	chr6:31193575-31193576	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs139114242	chr6:31193636-31193637	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs187248976	chr6:31193688-31193689	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs142412405	chr6:31193727-31193728	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs532863155	chr6:31193743-31193744	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs113972309	chr6:31193747-31193748	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs111344156	chr6:31193751-31193752	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs4098923	chr6:31193756-31193757	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs7757983	chr6:31193764-31193765	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:123)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31179200-31195000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:31189000-31196400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:31190000-31192800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:31190800-31197600	Weak transcription	Right Atrium	heart
5	chr6:31191000-31193000	Weak transcription	Colonic Mucosa	Colon
6	chr6:31192400-31193200	Enhancers	Pancreas	Pancrea
7	chr6:31192600-31192800	Enhancers	Spleen	Spleen
8	chr6:31192800-31193000	Enhancers	Placenta	Placenta
9	chr6:31192800-31193200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:31192800-31193200	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:31192800-31193200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:31192800-31193200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:31193000-31193200	Enhancers	Colonic Mucosa	Colon
14	chr6:31193000-31193400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:31193200-31196400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:31193200-31196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:31193200-31196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:31193200-31196600	Weak transcription	Colonic Mucosa	Colon
19	chr6:31193200-31201600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:31193400-31193800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:31193800-31194000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr6:31194000-31196400	Weak transcription	Rectal Mucosa Donor 31	rectum

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