Variant report

Variant	rs11554395
Chromosome Location	chr4:100869510-100869511
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:100869382-100869685	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:100869385-100869660	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr4:100867264-100869550	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr4:100869505-100869621	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:100869246-100869680	T-47D	breast:	n/a	n/a
6	POLR2A	chr4:100869283-100869671	GM12891	blood:	n/a	n/a
7	POLR2A	chr4:100869401-100872488	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:100865896-100872667	H1-hESC	embryonic stem cell:	n/a	n/a
9	HEY1	chr4:100867526-100869800	K562	blood:	n/a	chr4:100867750-100867765
10	POLR2A	chr4:100866125-100872569	K562	blood:	n/a	n/a
11	POLR2A	chr4:100869411-100869749	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:100866814-100869632	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:100867393-100869527	HepG2	liver:	n/a	n/a
14	POLR2A	chr4:100867199-100869763	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:100869401-100869741	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:100008800..100012914-chr4:100866380..100869813,4	K562	blood:
2	chr4:100777426..100780201-chr4:100868427..100870605,2	K562	blood:
3	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
4	chr4:100008800..100013313-chr4:100866380..100869813,5	K562	blood:
5	chr4:100868231..100870491-chr4:101024426..101027309,2	K562	blood:
6	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
7	chr4:100868036..100870819-chr4:100983381..100985122,2	K562	blood:
8	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
9	chr4:100868745..100870761-chr4:100992723..100994637,2	K562	blood:
10	chr4:100729924..100732920-chr4:100868919..100870955,3	K562	blood:
11	chr4:100856020..100858032-chr4:100868560..100871073,2	K562	blood:
12	chr4:87927389..87929061-chr4:100868201..100870359,2	K562	blood:
13	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:
14	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
15	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
16	chr4:100733785..100736226-chr4:100868711..100870778,2	MCF-7	breast:
17	chr4:100458736..100461686-chr4:100868132..100870522,2	K562	blood:
18	chr4:100845037..100846550-chr4:100867903..100869729,2	MCF-7	breast:
19	chr4:100869091..100871239-chr4:103351380..103353176,2	K562	blood:
20	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
21	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:
22	chr4:100826139..100827985-chr4:100868304..100870406,2	K562	blood:

No data

Variant related genes	Relation type
DNAJB14	TF binding region
ENSG00000245322	TF binding region
ENSG00000138814	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000248161	Chromatin interaction
ENSG00000138821	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000254531	Chromatin interaction
ENSG00000145331	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	nsv879663	chr4:100866460-100876648	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
4	nsv967776	chr4:100869249-100872047	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 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	chr4:100868000-100871000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr4:100868200-100870000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:100868200-100870200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:100868200-100870200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:100868200-100870200	Transcr. at gene 5' and 3'	A549	lung
6	chr4:100868200-100870600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:100868400-100869800	Enhancers	Fetal Brain Male	brain
8	chr4:100868400-100869800	Genic enhancers	Fetal Lung	lung
9	chr4:100868400-100870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:100868400-100870000	Weak transcription	Esophagus	oesophagus
11	chr4:100868400-100870000	Enhancers	Fetal Heart	heart
12	chr4:100868400-100870000	Weak transcription	Left Ventricle	heart
13	chr4:100868400-100870000	Weak transcription	Ovary	ovary
14	chr4:100868400-100870000	Weak transcription	Spleen	Spleen
15	chr4:100868400-100870200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
16	chr4:100868400-100870200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
17	chr4:100868400-100870200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:100868400-100870200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
19	chr4:100868400-100870200	Transcr. at gene 5' and 3'	K562	blood
20	chr4:100868400-100870400	Weak transcription	Lung	lung
21	chr4:100868400-100870400	Weak transcription	Small Intestine	intestine
22	chr4:100868400-100870400	Transcr. at gene 5' and 3'	NHEK	skin
23	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
24	chr4:100868400-100870800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
25	chr4:100868600-100869600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr4:100868600-100869600	Genic enhancers	Fetal Thymus	thymus
27	chr4:100868600-100869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:100868600-100869800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:100868600-100869800	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr4:100868600-100869800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr4:100868600-100869800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr4:100868600-100869800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:100868600-100869800	Weak transcription	HSMMtube	muscle
34	chr4:100868600-100869800	Genic enhancers	Osteobl	bone
35	chr4:100868600-100870000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:100868600-100870000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:100868600-100870000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
38	chr4:100868600-100870000	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr4:100868600-100870000	Enhancers	Primary hematopoietic stem cells	blood
40	chr4:100868600-100870000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
41	chr4:100868600-100870000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:100868600-100870000	Weak transcription	Brain Angular Gyrus	brain
43	chr4:100868600-100870000	Enhancers	Brain Substantia Nigra	brain
44	chr4:100868600-100870000	Enhancers	Colon Smooth Muscle	Colon
45	chr4:100868600-100870000	Weak transcription	Gastric	stomach
46	chr4:100868600-100870000	Weak transcription	Pancreas	Pancrea
47	chr4:100868600-100870000	Weak transcription	Psoas Muscle	Psoas
48	chr4:100868600-100870000	Weak transcription	Right Atrium	heart
49	chr4:100868600-100870000	Weak transcription	Right Ventricle	heart
50	chr4:100868600-100870200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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