Variant report

Variant	rs374234680
Chromosome Location	chr13:51796022-51796023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr13:51795975-51796593	NB4	blood:	n/a	chr13:51796175-51796185
2	TCF12	chr13:51795966-51796405	A549	lung:	n/a	chr13:51795991-51795998
3	ZNF263	chr13:51795947-51797402	HEK293-T-REx	kidney:	n/a	chr13:51796069-51796078 chr13:51797021-51797030 chr13:51796761-51796770
4	MAX	chr13:51795936-51796601	HCT-116	colon:	n/a	chr13:51796175-51796185
5	NRF1	chr13:51795775-51796758	SK-N-SH	brain:	n/a	chr13:51796174-51796183
6	MYC	chr13:51795916-51796425	MCF10A-Er-Src	breast:	n/a	chr13:51796175-51796185
7	MAX	chr13:51795812-51796692	A549	lung:	n/a	chr13:51796175-51796185
8	POLR2A	chr13:51795999-51796422	HL-60	blood:	n/a	n/a
9	MAX	chr13:51795976-51796563	MCF-7	breast:	n/a	chr13:51796175-51796185
10	MXI1	chr13:51795937-51796342	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr13:51795851-51797362	A549	lung:	n/a	chr13:51797054-51797072 chr13:51796882-51796891
12	MAX	chr13:51795916-51796690	H1-hESC	embryonic stem cell:	n/a	chr13:51796175-51796185
13	MAX	chr13:51795921-51796620	A549	lung:	n/a	chr13:51796175-51796185
14	POLR2A	chr13:51795993-51796772	H1-neurons	neurons:	n/a	n/a
15	CTCF	chr13:51796020-51796170	AG04449	skin:	n/a	n/a
16	BACH1	chr13:51795887-51796535	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr13:51795886-51796595	H1-hESC	embryonic stem cell:	n/a	chr13:51796175-51796185
18	REST	chr13:51795797-51796692	H1-neurons	neurons:	n/a	n/a
19	STAT3	chr13:51795976-51796076	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F6	chr13:51796022-51796520	A549	lung:	n/a	chr13:51796174-51796183
21	SIN3A	chr13:51795896-51798320	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr13:51796020-51796577	MCF-7	breast:	n/a	chr13:51796175-51796185
23	POLR2A	chr13:51796021-51796709	H1-neurons	neurons:	n/a	n/a
24	PAX5	chr13:51796017-51796513	GM12878	blood:	n/a	n/a
25	MAX	chr13:51795896-51796649	ECC-1	luminal epithelium:	n/a	chr13:51796175-51796185
26	MAX	chr13:51795992-51796212	H1-hESC	embryonic stem cell:	n/a	chr13:51796175-51796185
27	E2F6	chr13:51796016-51796617	A549	lung:	n/a	chr13:51796174-51796183
28	POLR2A	chr13:51795917-51796592	SK-N-MC	brain:	n/a	n/a
29	CTCF	chr13:51796020-51796170	SK-N-SH_RA	brain:	n/a	n/a
30	MAX	chr13:51795854-51796588	HCT-116	colon:	n/a	chr13:51796175-51796185
31	MAX	chr13:51795931-51796639	NB4	blood:	n/a	chr13:51796175-51796185
32	MYC	chr13:51795778-51796333	MCF10A-Er-Src	breast:	n/a	chr13:51796175-51796185
33	CTCF	chr13:51795982-51797516	SK-N-SH	brain:	n/a	chr13:51797054-51797072 chr13:51796882-51796891
34	MAX	chr13:51795871-51796553	ECC-1	luminal epithelium:	n/a	chr13:51796175-51796185
35	CTCF	chr13:51795920-51796070	BE2_C	brain:	n/a	n/a
36	MYC	chr13:51795938-51796457	A549	lung:	n/a	chr13:51796175-51796185
37	MAX	chr13:51795924-51796572	SK-N-SH	brain:	n/a	chr13:51796175-51796185
38	MAX	chr13:51795951-51796505	K562	blood:	n/a	chr13:51796175-51796185
39	CTBP2	chr13:51795964-51797389	H1-hESC	embryonic stem cell:	n/a	n/a
40	EP300	chr13:51796009-51796159	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINE3-4	chr13:51795151-51798286	ncRnaDb_ncrna_FR376720_3

Variant related genes	Relation type
FAM124A	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv3332869	chr13:51795701-51797799	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51795400-51796200	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr13:51795600-51796200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:51795600-51796200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:51795600-51796200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
5	chr13:51795600-51796200	Active TSS	Esophagus	oesophagus
6	chr13:51795600-51796400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:51795600-51797200	Active TSS	A549	lung
8	chr13:51795800-51796200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
9	chr13:51795800-51796200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
10	chr13:51795800-51796200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
11	chr13:51795800-51796200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr13:51795800-51796200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr13:51795800-51796200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:51795800-51796200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:51795800-51796200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr13:51795800-51796200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr13:51795800-51796200	Active TSS	Right Atrium	heart
18	chr13:51795800-51796200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr13:51795800-51796200	Flanking Bivalent TSS/Enh	Osteobl	bone
20	chr13:51795800-51796400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:51795800-51796400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
22	chr13:51795800-51796400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:51795800-51796400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:51795800-51796400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr13:51795800-51796400	Flanking Active TSS	Fetal Brain Male	brain
26	chr13:51795800-51796400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
27	chr13:51795800-51796400	Flanking Active TSS	Right Ventricle	heart
28	chr13:51795800-51796400	Flanking Bivalent TSS/Enh	Dnd41	blood
29	chr13:51795800-51796400	Flanking Bivalent TSS/Enh	HMEC	breast
30	chr13:51795800-51796400	Flanking Active TSS	HUVEC	blood vessel
31	chr13:51795800-51796400	Flanking Active TSS	NHLF	lung
32	chr13:51795800-51796600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:51795800-51796800	Active TSS	Stomach Smooth Muscle	stomach
34	chr13:51795800-51796800	Bivalent/Poised TSS	NHEK	skin
35	chr13:51795800-51797000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:51795800-51797000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:51795800-51797000	Bivalent/Poised TSS	GM12878-XiMat	blood
38	chr13:51795800-51797200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:51795800-51797400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:51795800-51797400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr13:51795800-51797400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr13:51795800-51797400	Bivalent/Poised TSS	Thymus	Thymus
43	chr13:51795800-51797600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr13:51795800-51797600	Active TSS	Brain Anterior Caudate	brain
45	chr13:51795800-51797600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr13:51795800-51797800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr13:51795800-51797800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
48	chr13:51795800-51798000	Active TSS	Fetal Brain Female	brain
49	chr13:51795800-51798400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr13:51795800-51798600	Active TSS	Brain Cingulate Gyrus	brain

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