Variant report

Variant	rs72663030
Chromosome Location	chr4:74122744-74122745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:74122715-74125687	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:74122469-74126057	GM12878	blood:	n/a	n/a
3	MXI1	chr4:74122089-74126209	IMR90	lung:	n/a	chr4:74122466-74122481
4	POLR2A	chr4:74122595-74126208	GM12891	blood:	n/a	n/a
5	CTCF	chr4:74122628-74123906	A549	lung:	n/a	n/a
6	MXI1	chr4:74122386-74125957	SK-N-SH	brain:	n/a	chr4:74122466-74122481
7	CTCF	chr4:74122703-74123395	HCT-116	colon:	n/a	n/a
8	RAD21	chr4:74122681-74123456	HCT-116	colon:	n/a	n/a
9	CTCF	chr4:74122630-74124635	SK-N-SH	brain:	n/a	n/a
10	RAD21	chr4:74122738-74123416	HCT-116	colon:	n/a	n/a
11	POLR2A	chr4:74122166-74125713	K562	blood:	n/a	n/a
12	RAD21	chr4:74122738-74123333	MCF-7	breast:	n/a	n/a
13	RAD21	chr4:74122685-74123509	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr4:74122552-74125366	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:73929823..73938112-chr4:74120693..74129342,27	K562	blood:
2	chr4:74122515..74124717-chr4:75023066..75024638,2	K562	blood:
3	chr4:73992240..73994706-chr4:74121884..74123760,2	MCF-7	breast:
4	chr4:73932413..73938405-chr4:74120693..74126649,20	K562	blood:
5	chr4:73933853..73938156-chr4:74122325..74126609,11	MCF-7	breast:
6	chr4:74018332..74023301-chr4:74122420..74126136,8	MCF-7	breast:
7	chr4:73932730..73938383-chr4:74120374..74126369,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250220	TF binding region
ENSG00000132466	Chromatin interaction
ENSG00000163626	Chromatin interaction
ENSG00000269559	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3350599	chr4:74122400-74142462	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
3	chr4:74078200-74123000	Weak transcription	Lung	lung
4	chr4:74087800-74123400	Weak transcription	Gastric	stomach
5	chr4:74101000-74123000	Weak transcription	Placenta	Placenta
6	chr4:74106600-74123000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:74111400-74122800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:74111400-74123000	Weak transcription	Pancreas	Pancrea
9	chr4:74112400-74123200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:74116400-74123400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:74116800-74123000	Weak transcription	Left Ventricle	heart
12	chr4:74117000-74122800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:74118600-74122800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr4:74120000-74122800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr4:74120200-74122800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr4:74120600-74122800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:74121000-74122800	Enhancers	Brain Cingulate Gyrus	brain
18	chr4:74121000-74122800	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr4:74121200-74124000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:74121600-74123000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr4:74121600-74125400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:74121600-74126000	Active TSS	Right Ventricle	heart
23	chr4:74121800-74122800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:74121800-74122800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:74121800-74122800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr4:74121800-74122800	Genic enhancers	HSMM	muscle
27	chr4:74121800-74122800	Transcr. at gene 5' and 3'	K562	blood
28	chr4:74121800-74122800	Flanking Active TSS	NHEK	skin
29	chr4:74121800-74123000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
30	chr4:74121800-74123000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:74121800-74123000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr4:74121800-74123000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:74121800-74123000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr4:74121800-74123000	Flanking Active TSS	HUVEC	blood vessel
35	chr4:74121800-74123000	Flanking Active TSS	Osteobl	bone
36	chr4:74121800-74123600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr4:74121800-74123800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:74122000-74122800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:74122000-74122800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:74122000-74122800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:74122000-74122800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
42	chr4:74122000-74122800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
43	chr4:74122000-74122800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:74122000-74122800	Flanking Active TSS	Fetal Brain Female	brain
45	chr4:74122000-74122800	Transcr. at gene 5' and 3'	NH-A	brain
46	chr4:74122000-74123000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:74122000-74123000	Flanking Active TSS	Fetal Heart	heart
48	chr4:74122000-74123000	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr4:74122000-74124000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:74122000-74124000	Active TSS	Right Atrium	heart

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