Variant report

Variant	rs2237338
Chromosome Location	chr7:27779450-27779451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:321)
CpG islands
(count:122)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:27779102-27779851	K562	blood:	n/a	chr7:27779197-27779210
2	POLR2A	chr7:27778891-27780253	PFSK-1	brain:	n/a	n/a
3	REST	chr7:27779448-27779904	SK-N-SH	brain:	n/a	n/a
4	HEY1	chr7:27779225-27779996	HepG2	liver:	n/a	n/a
5	TBP	chr7:27779187-27780673	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:27779296-27780569	GM18526	blood:	n/a	n/a
7	RELA	chr7:27779296-27780629	GM18951	blood:	n/a	n/a
8	POLR2A	chr7:27778676-27780760	PBDE	blood:	n/a	n/a
9	POLR2A	chr7:27778869-27780958	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:27779301-27779991	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:27779304-27780690	MCF-7	breast:	n/a	n/a
12	SMC3	chr7:27778874-27780695	Hela-S3	cervix:	n/a	n/a
13	SIN3AK20	chr7:27779089-27780700	PANC-1	pancreas:	n/a	n/a
14	MAX	chr7:27779350-27780760	A549	lung:	n/a	chr7:27780133-27780142 chr7:27780137-27780144
15	TCF12	chr7:27779277-27780776	A549	lung:	n/a	n/a
16	POLR2A	chr7:27778927-27780723	K562	blood:	n/a	n/a
17	USF2	chr7:27779110-27779655	Hela-S3	cervix:	n/a	n/a
18	HCFC1	chr7:27778965-27780872	K562	blood:	n/a	n/a
19	CEBPB	chr7:27779447-27779922	HepG2	liver:	n/a	n/a
20	MAX	chr7:27779220-27780880	HCT-116	colon:	n/a	chr7:27780133-27780142 chr7:27780137-27780144
21	CREB1	chr7:27779398-27780735	HepG2	liver:	n/a	n/a
22	SMARCC1	chr7:27778996-27780694	Hela-S3	cervix:	n/a	n/a
23	CREB1	chr7:27779380-27780609	A549	lung:	n/a	n/a
24	SP1	chr7:27779438-27779989	H1-hESC	embryonic stem cell:	n/a	chr7:27779728-27779739 chr7:27779707-27779718
25	CEBPB	chr7:27779413-27779957	HepG2	liver:	n/a	n/a
26	CREB1	chr7:27779255-27780059	K562	blood:	n/a	n/a
27	NFIC	chr7:27779357-27779815	GM12878	blood:	n/a	n/a
28	SPI1	chr7:27779433-27780069	HL-60	blood:	n/a	n/a
29	HDAC2	chr7:27779232-27779861	HepG2	liver:	n/a	chr7:27779445-27779464
30	KAP1	chr7:27779013-27779680	U2OS	brain:	n/a	n/a
31	POLR2A	chr7:27779157-27780744	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr7:27779396-27780094	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr7:27778912-27780792	K562	blood:	n/a	n/a
34	RUNX3	chr7:27779409-27780827	GM12878	blood:	n/a	n/a
35	KAP1	chr7:27778905-27780728	HEK293	kidney:	n/a	chr7:27780370-27780378
36	REST	chr7:27779111-27780862	HL-60	blood:	n/a	chr7:27779445-27779465 chr7:27780454-27780472
37	POLR2A	chr7:27779426-27780699	GM10847	blood:	n/a	n/a
38	POLR2A	chr7:27779307-27780567	A549	lung:	n/a	n/a
39	YY1	chr7:27779248-27780568	SK-N-SH_RA	brain:	n/a	n/a
40	MAFF	chr7:27779263-27779523	K562	blood:	n/a	n/a
41	MYC	chr7:27778646-27780714	K562	blood:	n/a	chr7:27780133-27780142 chr7:27780137-27780144
42	POLR2A	chr7:27779353-27779943	SK-N-MC	brain:	n/a	n/a
43	TAF1	chr7:27779256-27780157	K562	blood:	n/a	n/a
44	POLR2A	chr7:27778934-27780798	K562	blood:	n/a	n/a
45	ZNF263	chr7:27779134-27779959	HEK293-T-REx	kidney:	n/a	chr7:27779603-27779624
46	POLR2A	chr7:27779063-27780959	MCF10A-Er-Src	breast:	n/a	n/a
47	SIX5	chr7:27779199-27780162	A549	lung:	n/a	n/a
48	POLR2A	chr7:27779273-27780721	Hela-S3	cervix:	n/a	n/a
49	RCOR1	chr7:27779378-27780933	GM12878	blood:	n/a	n/a
50	CHD1	chr7:27779142-27780705	GM12878	blood:	n/a	chr7:27780505-27780515

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27779430-27779480	HepG2	liver:	n/a
2	chr7:27779421-27779471	LNCaP	prostate:	n/a
3	chr7:27779430-27779480	HL-60	blood:	n/a
4	chr7:27779421-27779471	Caco-2	colon:	n/a
5	chr7:27779430-27779480	HUVEC	blood vessel:	n/a
6	chr7:27779421-27779471	RPTEC	kidney:	n/a
7	chr7:27779430-27779480	AoSMC	blood vessel:	n/a
8	chr7:27779421-27779471	CMK	blood:	n/a
9	chr7:27779421-27779471	HRPEpiC	eye:	n/a
10	chr7:27779430-27779480	HAEpiC	amniotic membrane:	n/a
11	chr7:27779430-27779480	Hepatocyte	liver:	n/a
12	chr7:27779430-27779480	AG04450	lung:	fetal
13	chr7:27779430-27779480	RPTEC	kidney:	n/a
14	chr7:27779430-27779480	GM12891	blood:	n/a
15	chr7:27779421-27779471	MCF-7	breast:	n/a
16	chr7:27779421-27779471	HRCEpiC	kidney:	n/a
17	chr7:27779421-27779471	AG04449	skin:	fetal
18	chr7:27779430-27779480	ProgFib	skin:	n/a
19	chr7:27779430-27779480	SKMC	muscle:	n/a
20	chr7:27779430-27779480	MCF-7	breast:	n/a
21	chr7:27779430-27779480	Caco-2	colon:	n/a
22	chr7:27779421-27779471	K562	blood:	n/a
23	chr7:27779421-27779471	HAEpiC	amniotic membrane:	n/a
24	chr7:27779421-27779471	PrEC	prostate:	n/a
25	chr7:27779421-27779471	T-47D	breast:	n/a
26	chr7:27779430-27779480	NT2-D1	testis:	n/a
27	chr7:27779430-27779480	HCPEpiC	choroid plexus:	n/a
28	chr7:27779430-27779480	K562	blood:	n/a
29	chr7:27779421-27779471	HCPEpiC	choroid plexus:	n/a
30	chr7:27779430-27779480	U87	brain:	n/a
31	chr7:27779430-27779480	MCF10A-Er-Src	breast:	n/a
32	chr7:27779421-27779471	HRE	kidney:	n/a
33	chr7:27779421-27779471	MCF10A-Er-Src	breast:	n/a
34	chr7:27779421-27779471	IMR90	lung:	fetal
35	chr7:27779430-27779480	HRPEpiC	eye:	n/a
36	chr7:27779430-27779480	AG10803	skin:	n/a
37	chr7:27779421-27779471	HUVEC	blood vessel:	n/a
38	chr7:27779421-27779471	SKMC	muscle:	n/a
39	chr7:27779430-27779480	AG09319	gingival:	n/a
40	chr7:27779430-27779480	LNCaP	prostate:	n/a
41	chr7:27779430-27779480	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:27779430-27779480	BE2_C	brain:	n/a
43	chr7:27779421-27779471	Jurkat	blood:	n/a
44	chr7:27779421-27779471	GM12878	blood:	n/a
45	chr7:27779421-27779471	H1-hESC	embryonic stem cell:	embryo
46	chr7:27779430-27779480	AG09309	skin:	n/a
47	chr7:27779430-27779480	HCT-116	colon:	n/a
48	chr7:27779421-27779471	SAEC	small airway:	n/a
49	chr7:27779430-27779480	HRCEpiC	kidney:	n/a
50	chr7:27779430-27779480	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:123011130..123011798-chr7:27778729..27779635,2	Hela-S3	cervix:
2	chr7:27778585..27781573-chr7:27808183..27810027,3	MCF-7	breast:
3	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
4	chr6:31795239..31795756-chr7:27779005..27779583,2	Hela-S3	cervix:
5	chr7:27700432..27708426-chr7:27777901..27782637,20	K562	blood:
6	chr19:58897936..58898894-chr7:27779347..27780195,2	NB4	blood:
7	chr5:40679274..40679984-chr7:27778984..27779514,2	Hela-S3	cervix:
8	chr6:43737972..43738858-chr7:27779375..27780262,2	Hela-S3	cervix:
9	chr11:82867593..82868687-chr7:27779379..27780278,3	NB4	blood:
10	chr20:32580406..32581017-chr7:27779258..27779953,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TAX1BP1	TF binding region
TAX1BP1	CpG island
ENSG00000083845	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000228265	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000106049	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000171522	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000266640	Chromatin interaction
ENSG00000106052	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000165494	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10214930	0.88[JPT][hapmap]
rs10250333	0.88[JPT][hapmap]
rs10268051	0.89[JPT][hapmap]
rs12533731	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2237345	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4481475	0.88[JPT][hapmap]
rs7800116	0.88[JPT][hapmap]
rs7807738	0.89[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27777800-27781200	Active TSS	K562	blood
2	chr7:27778200-27780600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:27778400-27779600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:27778400-27780800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:27778400-27781200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:27778600-27779600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr7:27778600-27779600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr7:27778600-27779600	Active TSS	Right Atrium	heart
9	chr7:27778600-27780600	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr7:27778600-27780600	Active TSS	Stomach Smooth Muscle	stomach
11	chr7:27778600-27780800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr7:27778600-27781000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:27778600-27781200	Active TSS	Fetal Intestine Large	intestine
14	chr7:27778600-27781200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:27778600-27781200	Active TSS	GM12878-XiMat	blood
16	chr7:27778600-27781200	Active TSS	NHLF	lung
17	chr7:27778600-27782200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:27778800-27779600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr7:27778800-27779600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr7:27778800-27779600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:27778800-27779800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:27778800-27779800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:27778800-27780600	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr7:27778800-27780600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:27778800-27780600	Active TSS	Fetal Stomach	stomach
26	chr7:27778800-27780800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:27778800-27780800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr7:27778800-27780800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:27778800-27780800	Active TSS	Colon Smooth Muscle	Colon
30	chr7:27778800-27780800	Active TSS	Fetal Muscle Leg	muscle
31	chr7:27778800-27781000	Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:27778800-27781000	Active TSS	Colonic Mucosa	Colon
33	chr7:27778800-27781000	Active TSS	Psoas Muscle	Psoas
34	chr7:27778800-27781200	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr7:27778800-27781200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:27778800-27781200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:27778800-27781200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:27778800-27781200	Active TSS	Brain Angular Gyrus	brain
39	chr7:27778800-27781200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:27778800-27781200	Active TSS	Fetal Intestine Small	intestine
41	chr7:27778800-27781200	Active TSS	Right Ventricle	heart
42	chr7:27778800-27781200	Active TSS	Stomach Mucosa	stomach
43	chr7:27778800-27781200	Active TSS	NHDF-Ad	bronchial
44	chr7:27778800-27781400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr7:27779000-27779600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr7:27779000-27780400	Active TSS	Primary T cells fromperipheralblood	blood
47	chr7:27779000-27780600	Active TSS	Brain Substantia Nigra	brain
48	chr7:27779000-27780600	Active TSS	Duodenum Mucosa	Duodenum
49	chr7:27779000-27780600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr7:27779000-27780800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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