Variant report

Variant	rs74034937
Chromosome Location	chr14:21997468-21997469
allele	A/G
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	ATF1	chr14:21997147-21997541	K562	blood:	n/a	n/a
2	YY1	chr14:21997028-21997572	HepG2	liver:	n/a	n/a
3	KAP1	chr14:21996610-21997569	U2OS	brain:	n/a	chr14:21996663-21996672
4	TEAD4	chr14:21997059-21997625	K562	blood:	n/a	n/a
5	HNF4A	chr14:21997114-21997523	HepG2	liver:	n/a	chr14:21997251-21997266
6	ARID3A	chr14:21996539-21997519	K562	blood:	n/a	n/a
7	JUN	chr14:21997012-21997797	K562	blood:	n/a	chr14:21997419-21997433 chr14:21997284-21997293
8	REST	chr14:21997077-21997486	HepG2	liver:	n/a	n/a
9	JUN	chr14:21997120-21997526	HepG2	liver:	n/a	chr14:21997419-21997433 chr14:21997284-21997293
10	HNF4G	chr14:21996962-21997613	HepG2	liver:	n/a	n/a
11	TAL1	chr14:21996598-21997516	K562	blood:	n/a	chr14:21997359-21997367 chr14:21996989-21996998
12	BRCA1	chr14:21997347-21997515	H1-hESC	embryonic stem cell:	n/a	n/a
13	EP300	chr14:21996545-21997555	K562	blood:	n/a	chr14:21997088-21997102 chr14:21996661-21996670
14	FOXA1	chr14:21996953-21997513	HepG2	liver:	n/a	n/a
15	CEBPB	chr14:21997182-21997489	K562	blood:	n/a	n/a
16	SMC3	chr14:21996972-21997468	HepG2	liver:	n/a	n/a
17	RCOR1	chr14:21997178-21997534	K562	blood:	n/a	n/a
18	ZEB1	chr14:21996949-21997620	HepG2	liver:	n/a	n/a
19	EP300	chr14:21997052-21997613	HepG2	liver:	n/a	chr14:21997088-21997102
20	FOXA1	chr14:21997076-21997558	HepG2	liver:	n/a	n/a
21	MXI1	chr14:21997179-21997495	HepG2	liver:	n/a	n/a
22	FOXA2	chr14:21997064-21997567	HepG2	liver:	n/a	n/a
23	MAZ	chr14:21997167-21997485	K562	blood:	n/a	n/a
24	YY1	chr14:21997135-21997489	K562	blood:	n/a	n/a
25	MEF2A	chr14:21997035-21997582	K562	blood:	n/a	n/a
26	MEF2A	chr14:21997178-21997520	K562	blood:	n/a	n/a
27	POLR2A	chr14:21996619-21997575	H1-hESC	embryonic stem cell:	n/a	n/a
28	EP300	chr14:21997210-21997487	HepG2	liver:	n/a	n/a
29	HNF4A	chr14:21997041-21997526	HepG2	liver:	n/a	chr14:21997251-21997266
30	CEBPB	chr14:21997107-21997470	HepG2	liver:	n/a	n/a
31	ARID3A	chr14:21996905-21997545	HepG2	liver:	n/a	n/a
32	MYBL2	chr14:21996495-21997650	HepG2	liver:	n/a	n/a
33	HDAC2	chr14:21997025-21997542	HepG2	liver:	n/a	chr14:21997365-21997374
34	HEY1	chr14:21997028-21997483	HepG2	liver:	n/a	n/a
35	ELK1	chr14:21997038-21997570	K562	blood:	n/a	n/a
36	TBL1XR1	chr14:21997163-21997601	K562	blood:	n/a	n/a
37	MAFK	chr14:21997244-21997523	HepG2	liver:	n/a	n/a
38	JUN	chr14:21996595-21997517	K562	blood:	n/a	chr14:21997419-21997433 chr14:21997284-21997293 chr14:21996661-21996670 chr14:21996663-21996670
39	MYC	chr14:21997225-21997617	K562	blood:	n/a	n/a
40	JUND	chr14:21997125-21997491	HepG2	liver:	n/a	chr14:21997419-21997433 chr14:21997284-21997293
41	NFIC	chr14:21996895-21997570	HepG2	liver:	n/a	n/a
42	CEBPB	chr14:21997188-21997503	HepG2	liver:	n/a	n/a
43	RXRA	chr14:21997081-21997527	HepG2	liver:	n/a	n/a
44	HDAC2	chr14:21996992-21997627	HepG2	liver:	n/a	chr14:21997365-21997374
45	ZEB1	chr14:21996639-21997725	HepG2	liver:	n/a	n/a
46	CEBPD	chr14:21997093-21997548	K562	blood:	n/a	n/a
47	CREB1	chr14:21997054-21997595	HepG2	liver:	n/a	n/a
48	SRF	chr14:21997136-21997477	HepG2	liver:	n/a	n/a
49	FOXA1	chr14:21997000-21997566	HepG2	liver:	n/a	n/a
50	SP1	chr14:21996965-21997582	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149856183..149858038-chr14:21995590..21998397,2	K562	blood:
2	chr14:21976926..21983845-chr14:21991695..21998209,25	K562	blood:
3	chr14:21997433..21999018-chr14:22000681..22002820,2	K562	blood:
4	chr14:21996508..21998205-chr14:22004849..22006828,2	K562	blood:

Variant related genes	Relation type
SALL2	TF binding region
ENSG00000165821	Chromatin interaction
ENSG00000165819	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2031064	1.00[EUR][1000 genomes]
rs57046561	1.00[AMR][1000 genomes]
rs57149584	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74034936	1.00[AMR][1000 genomes]
rs8016621	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv522850	chr14:21989841-21998108	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1049871	chr14:21992049-22053477	Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21995000-21998800	Weak transcription	NHEK	skin
2	chr14:21995000-21999000	Weak transcription	HMEC	breast
3	chr14:21995400-21997800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr14:21995400-21998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:21995400-21998800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:21995400-21999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:21995400-21999200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:21995400-22002800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:21995600-21997600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:21995600-21998200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:21995600-21998600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:21995600-21998800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:21995600-22001600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:21995800-21997600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:21995800-21999600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr14:21996000-21999400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:21996200-21999400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:21996400-21997600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:21996600-21997600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:21996600-21997600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
21	chr14:21996600-21997800	Flanking Active TSS	HepG2	liver
22	chr14:21996800-21997600	Enhancers	Fetal Intestine Large	intestine
23	chr14:21996800-21997600	Flanking Active TSS	K562	blood
24	chr14:21996800-21997800	Enhancers	Fetal Intestine Small	intestine
25	chr14:21997000-21997600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr14:21997000-22002800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:21997000-22003400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:21997200-21997600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:21997400-21998200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:21997400-21998800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:21997400-22001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:21997400-22001200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:21997400-22001400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:21997400-22001400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:21997400-22002400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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