Variant report

Variant	rs372555629
Chromosome Location	chr14:37050200-37050201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr14:37048727-37050904	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr14:37050014-37050632	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr14:37050123-37050238	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr14:37050060-37050210	HBMEC	blood vessel:	n/a	n/a
5	EGR1	chr14:37049918-37050649	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr14:37050185-37050758	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr14:37049810-37050676	H1-neurons	neurons:	n/a	n/a
8	CTCF	chr14:37050169-37050234	MCF-7	breast:	n/a	n/a
9	GABPA	chr14:37049998-37050711	H1-hESC	embryonic stem cell:	n/a	n/a
10	EGR1	chr14:37050138-37050920	MCF-7	breast:	n/a	n/a
11	MAX	chr14:37050071-37050791	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr14:37050100-37050250	AG09319	gingival:	n/a	n/a
13	MAX	chr14:37049998-37051153	A549	lung:	n/a	chr14:37051121-37051131
14	ELF1	chr14:37050097-37051127	MCF-7	breast:	n/a	n/a
15	MAX	chr14:37050150-37050941	A549	lung:	n/a	n/a
16	MAX	chr14:37050079-37050968	MCF-7	breast:	n/a	n/a
17	GABPA	chr14:37050196-37050919	MCF-7	breast:	n/a	n/a
18	POLR2A	chr14:37050138-37050753	H1-neurons	neurons:	n/a	n/a
19	NR2F2	chr14:37050055-37051067	MCF-7	breast:	n/a	n/a
20	MAX	chr14:37050077-37050829	ECC-1	luminal epithelium:	n/a	n/a
21	TBP	chr14:37049993-37050583	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr14:37050200-37050350	GM12871	blood:	n/a	n/a
23	SUZ12	chr14:37048394-37054757	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr14:37050145-37050824	MCF-7	breast:	n/a	n/a
25	POLR2A	chr14:37050110-37051132	MCF-7	breast:	n/a	n/a
26	MYC	chr14:37050103-37050647	A549	lung:	n/a	n/a
27	CTCF	chr14:37050100-37050250	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr14:37050060-37050210	HAc	cerebellar:	n/a	n/a
29	HDAC2	chr14:37049924-37050977	MCF-7	breast:	n/a	n/a
30	CREB1	chr14:37049964-37050491	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:37050161-37050223	LNCaP	prostate:	n/a	n/a
32	E2F6	chr14:37050108-37051092	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37047412..37050390-chr14:37058985..37061085,2	MCF-7	breast:
2	chr14:37043777..37046012-chr14:37049120..37051344,2	MCF-7	breast:
3	chr14:37049506..37051705-chr14:37066092..37068033,2	MCF-7	breast:
4	chr14:37043733..37046735-chr14:37047521..37050393,3	K562	blood:

No data

Variant related genes	Relation type
RPL29P3	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv949612	chr14:36996206-37121633	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv32575	chr14:37047629-37052658	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3358545	chr14:37049026-37051574	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37048000-37054800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37048400-37050200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:37048800-37050200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:37048800-37050600	ZNF genes & repeats	Spleen	Spleen
5	chr14:37048800-37051800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr14:37049000-37052400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr14:37049200-37050400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr14:37049200-37051800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:37049400-37050200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:37049400-37050400	Bivalent Enhancer	Left Ventricle	heart
11	chr14:37049400-37050800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:37049400-37051000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr14:37049400-37051000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
14	chr14:37049600-37050200	Bivalent Enhancer	Colonic Mucosa	Colon
15	chr14:37049600-37050400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:37049600-37050400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr14:37049600-37050400	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr14:37049600-37050400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
19	chr14:37049600-37050600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
20	chr14:37049600-37051000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:37049600-37051000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:37049600-37052200	Bivalent Enhancer	Fetal Brain Male	brain
23	chr14:37049800-37050200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
24	chr14:37049800-37050200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr14:37049800-37050200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
26	chr14:37049800-37050400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:37049800-37050400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr14:37049800-37050400	Bivalent Enhancer	Placenta	Placenta
29	chr14:37049800-37050400	Bivalent Enhancer	Fetal Stomach	stomach
30	chr14:37049800-37050800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr14:37049800-37050800	Bivalent Enhancer	Fetal Heart	heart
32	chr14:37049800-37051000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr14:37049800-37051000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:37049800-37051000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr14:37049800-37051000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
36	chr14:37049800-37051800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr14:37050000-37050200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:37050000-37050200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:37050000-37050200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
40	chr14:37050000-37050200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr14:37050000-37050200	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr14:37050000-37050200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
43	chr14:37050000-37050200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
44	chr14:37050000-37050200	Enhancers	Gastric	stomach
45	chr14:37050000-37050200	Bivalent Enhancer	Ovary	ovary
46	chr14:37050000-37050200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
47	chr14:37050000-37050200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
48	chr14:37050000-37050200	Flanking Bivalent TSS/Enh	NHEK	skin
49	chr14:37050000-37050400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:37050000-37050400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood

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