Variant report

Variant	esv3324528
Chromosome Location	chr6:34076874-34081272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:34079999-34080142	K562	blood:	n/a	n/a
2	CTCF	chr6:34078196-34078253	GM20000	blood:	n/a	n/a
3	CTCF	chr6:34080000-34080150	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr6:34080024-34080114	Medullo	brain:	n/a	n/a
5	CTCF	chr6:34078447-34078492	Pancreas_OC	pancreas:	n/a	n/a
6	CTCF	chr6:34080000-34080150	BE2_C	brain:	n/a	n/a
7	RAD21	chr6:34079828-34080250	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr6:34079948-34080269	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr6:34079924-34080216	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF263	chr6:34081268-34081727	HEK293-T-REx	kidney:	n/a	chr6:34081468-34081489 chr6:34081486-34081495 chr6:34081502-34081523

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34070510..34073396-chr6:34076306..34077910,2	MCF-7	breast:
2	chr6:34080081..34083212-chr6:34095884..34099849,3	MCF-7	breast:
3	chr6:34072071..34075419-chr6:34078119..34081173,3	K562	blood:
4	chr6:34069851..34072638-chr6:34076441..34079307,2	MCF-7	breast:
5	chr6:34070999..34073655-chr6:34074573..34077003,3	K562	blood:
6	chr6:34080760..34083112-chr6:34091391..34094093,2	K562	blood:
7	chr6:34065737..34070590-chr6:34071331..34077866,9	K562	blood:

No data

Variant related genes	Relation type
GRM4	TF binding region
ENSG00000124493	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540354068	chr6:34076882-34076883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114467678	chr6:34076894-34076895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563318361	chr6:34077000-34077001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140863900	chr6:34077046-34077047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552157149	chr6:34077084-34077085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571306898	chr6:34077113-34077114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539882961	chr6:34077192-34077193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538605629	chr6:34077195-34077196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547376949	chr6:34077209-34077210	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566828527	chr6:34077231-34077232	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560295855	chr6:34077243-34077244	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536327085	chr6:34077253-34077254	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150172327	chr6:34077264-34077265	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560967390	chr6:34077277-34077278	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576527403	chr6:34077290-34077291	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537770407	chr6:34077318-34077319	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531192400	chr6:34077377-34077378	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180996335	chr6:34077385-34077386	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576918406	chr6:34077442-34077443	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77556944	chr6:34077494-34077495	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532533599	chr6:34077541-34077542	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574615868	chr6:34077563-34077564	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370691232	chr6:34077582-34077583	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145552542	chr6:34077603-34077604	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375587647	chr6:34077711-34077712	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571618390	chr6:34077712-34077713	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs397807578	chr6:34077717-34077718	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530569813	chr6:34077722-34077723	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114538520	chr6:34077775-34077776	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564079949	chr6:34077797-34077798	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185664441	chr6:34077807-34077808	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533618287	chr6:34077808-34077809	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368435704	chr6:34077822-34077823	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552011164	chr6:34077834-34077835	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11966397	chr6:34077844-34077845	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565721281	chr6:34077876-34077877	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367562263	chr6:34077936-34077937	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548365388	chr6:34077948-34077949	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570236125	chr6:34077968-34077969	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537209122	chr6:34077976-34077977	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2087492	chr6:34077978-34077979	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535317376	chr6:34077982-34077983	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs902205	chr6:34077996-34077997	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369524741	chr6:34078009-34078010	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145691081	chr6:34078015-34078016	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs902206	chr6:34078017-34078018	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377042523	chr6:34078028-34078029	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs902207	chr6:34078080-34078081	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs902208	chr6:34078084-34078085	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs5875490	chr6:34078087-34078088	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
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
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
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
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34025000-34101800	Weak transcription	Right Atrium	heart
2	chr6:34051400-34089000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:34067000-34097000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:34067200-34080600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:34067200-34089000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:34067400-34089000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:34068200-34078200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:34071600-34081800	Weak transcription	Brain Anterior Caudate	brain
9	chr6:34076800-34077400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:34077200-34077400	Bivalent Enhancer	Right Ventricle	heart
11	chr6:34077400-34080200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:34078200-34078800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:34078400-34078600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:34078400-34079200	Bivalent Enhancer	Fetal Brain Male	brain
15	chr6:34078400-34080800	Enhancers	Fetal Brain Female	brain
16	chr6:34078600-34078800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:34078600-34078800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr6:34078800-34083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:34079200-34080800	Enhancers	Brain Germinal Matrix	brain
20	chr6:34079200-34080800	Enhancers	Fetal Brain Male	brain
21	chr6:34079400-34079600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:34079400-34079600	Bivalent Enhancer	Fetal Stomach	stomach
23	chr6:34080200-34080800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:34080600-34080800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:34080800-34081600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:34080800-34081800	Weak transcription	Fetal Brain Female	brain
27	chr6:34080800-34082400	Weak transcription	Fetal Brain Male	brain
28	chr6:34080800-34088200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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