Variant report

Variant	rs7158835
Chromosome Location	chr14:35099009-35099010
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	STAT1	chr14:35098833-35099645	GM12878	blood:	n/a	chr14:35098942-35098950
2	POLR2A	chr14:35098941-35099773	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:35098963-35099565	GM12891	blood:	n/a	n/a
4	SIN3A	chr14:35098781-35099613	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr14:35098980-35099130	GM06990	blood:	n/a	n/a
6	POLR2A	chr14:35098743-35099714	GM15510	blood:	n/a	n/a
7	TCF12	chr14:35098896-35099567	A549	lung:	n/a	chr14:35098986-35098993
8	TCF7L2	chr14:35098711-35099523	HCT-116	colon:	n/a	n/a
9	YY1	chr14:35098573-35099756	GM12892	blood:	n/a	chr14:35099309-35099329 chr14:35099020-35099031 chr14:35098637-35098653 chr14:35099437-35099451
10	MAZ	chr14:35098710-35099556	HepG2	liver:	n/a	chr14:35098789-35098799
11	POLR2A	chr14:35098990-35099691	K562	blood:	n/a	n/a
12	NFIC	chr14:35098798-35099907	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:35098610-35099859	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr14:35098840-35099692	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr14:35098852-35099704	GM12878	blood:	n/a	n/a
16	ELF1	chr14:35098814-35099045	K562	blood:	n/a	n/a
17	POLR2A	chr14:35098984-35099557	ECC-1	luminal epithelium:	n/a	n/a
18	TBP	chr14:35098769-35099618	K562	blood:	n/a	n/a
19	POLR2A	chr14:35098914-35099685	K562	blood:	n/a	n/a
20	MAX	chr14:35098629-35099085	A549	lung:	n/a	chr14:35098789-35098799
21	TAF1	chr14:35098743-35099038	K562	blood:	n/a	n/a
22	POLR2A	chr14:35098611-35099658	GM12878	blood:	n/a	n/a
23	CTCF	chr14:35099000-35099150	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:35098927-35099405	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZBTB7A	chr14:35098804-35099091	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:35098984-35099814	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr14:35098900-35099050	BJ	skin:	n/a	n/a
28	POLR2A	chr14:35098652-35099734	ProgFib	skin:	n/a	n/a
29	POLR2A	chr14:35098850-35099616	A549	lung:	n/a	n/a
30	POLR2A	chr14:35098692-35099813	SK-N-MC	brain:	n/a	n/a
31	CHD1	chr14:35098938-35099206	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr14:35098705-35099198	HepG2	liver:	n/a	chr14:35098838-35098848
33	POLR2A	chr14:35098888-35099633	Hela-S3	cervix:	n/a	n/a
34	HEY1	chr14:35098520-35099963	HepG2	liver:	n/a	n/a
35	YY1	chr14:35098735-35099806	SK-N-SH_RA	brain:	n/a	chr14:35099309-35099329 chr14:35099020-35099031 chr14:35099437-35099451
36	TAF1	chr14:35098626-35099674	HepG2	liver:	n/a	n/a
37	RCOR1	chr14:35098941-35099592	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr14:35098545-35099858	HepG2	liver:	n/a	n/a
39	POLR2A	chr14:35098906-35099696	A549	lung:	n/a	n/a
40	POLR2A	chr14:35098967-35099773	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr14:35098911-35099770	MCF-7	breast:	n/a	n/a
42	POLR2A	chr14:35098591-35099718	K562	blood:	n/a	n/a
43	SPI1	chr14:35098759-35099379	HL-60	blood:	n/a	n/a
44	MBD4	chr14:35097784-35099967	HepG2	liver:	n/a	n/a
45	POLR2A	chr14:35098685-35099695	GM12878	blood:	n/a	n/a
46	POLR2A	chr14:35098633-35099679	K562	blood:	n/a	n/a
47	POLR2A	chr14:35099006-35099698	HepG2	liver:	n/a	n/a
48	POLR2A	chr14:35098703-35099694	ECC-1	luminal epithelium:	n/a	n/a
49	TAF1	chr14:35098769-35099764	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr14:35098628-35099740	SK-N-SH	brain:	n/a	chr14:35099309-35099329 chr14:35099020-35099031 chr14:35098637-35098653 chr14:35099437-35099451

No.	Distal block	Cell Line	Cell type
1	chr14:35096806..35099646-chr14:35341739..35344917,3	MCF-7	breast:
2	chr14:35098073..35100471-chr14:35183193..35185773,2	MCF-7	breast:
3	chr14:35097214..35099771-chr14:35162198..35164288,2	MCF-7	breast:
4	chr14:35097716..35101474-chr14:35182604..35185285,4	MCF-7	breast:
5	chr14:35097894..35099748-chr14:35341381..35343942,2	K562	blood:
6	chr14:35022750..35025769-chr14:35096151..35100054,3	MCF-7	breast:

Variant related genes	Relation type
SNX6	TF binding region
ENSG00000206588	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000241582	Chromatin interaction
ENSG00000165410	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10047864	0.91[AFR][1000 genomes]
rs10130845	0.86[AFR][1000 genomes]
rs10148580	0.91[AFR][1000 genomes]
rs10150788	0.86[AFR][1000 genomes]
rs11850619	0.81[AFR][1000 genomes]
rs28417078	0.86[AFR][1000 genomes]
rs28552616	0.86[AFR][1000 genomes]
rs7144947	0.91[AFR][1000 genomes]
rs8007754	0.91[AFR][1000 genomes]
rs8018056	0.86[AFR][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	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1040303	chr14:35040853-35101044	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv542027	chr14:35040853-35101044	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35097600-35100000	Active TSS	NHLF	lung
2	chr14:35097800-35099600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:35097800-35099800	Active TSS	K562	blood
4	chr14:35097800-35099800	Active TSS	NHDF-Ad	bronchial
5	chr14:35097800-35100000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:35097800-35100000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:35097800-35100000	Active TSS	GM12878-XiMat	blood
8	chr14:35098000-35099600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:35098000-35099600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:35098000-35099600	Active TSS	Small Intestine	intestine
11	chr14:35098000-35099800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:35098000-35099800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:35098000-35099800	Active TSS	Esophagus	oesophagus
14	chr14:35098000-35099800	Active TSS	Left Ventricle	heart
15	chr14:35098000-35099800	Active TSS	Psoas Muscle	Psoas
16	chr14:35098000-35099800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr14:35098000-35099800	Active TSS	HSMM	muscle
18	chr14:35098000-35100000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr14:35098000-35100000	Active TSS	Rectal Smooth Muscle	rectum
20	chr14:35098200-35099400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:35098200-35099600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr14:35098200-35099600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr14:35098200-35099600	Active TSS	Brain Angular Gyrus	brain
24	chr14:35098200-35099600	Active TSS	Colonic Mucosa	Colon
25	chr14:35098200-35099600	Active TSS	Fetal Intestine Large	intestine
26	chr14:35098200-35099600	Active TSS	NH-A	brain
27	chr14:35098200-35099800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr14:35098200-35099800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:35098200-35099800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:35098200-35099800	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr14:35098200-35099800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr14:35098200-35099800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:35098200-35099800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:35098200-35099800	Active TSS	Fetal Lung	lung
35	chr14:35098200-35099800	Active TSS	Ovary	ovary
36	chr14:35098200-35099800	Active TSS	Right Ventricle	heart
37	chr14:35098200-35100000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr14:35098400-35099600	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr14:35098400-35099600	Active TSS	Colon Smooth Muscle	Colon
40	chr14:35098400-35099600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr14:35098400-35099600	Active TSS	Fetal Intestine Small	intestine
42	chr14:35098400-35099600	Active TSS	Fetal Kidney	kidney
43	chr14:35098400-35099600	Active TSS	Fetal Muscle Leg	muscle
44	chr14:35098400-35099600	Active TSS	Fetal Stomach	stomach
45	chr14:35098400-35099600	Active TSS	A549	lung
46	chr14:35098400-35099800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:35098400-35099800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:35098400-35099800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr14:35098400-35099800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:35098400-35099800	Active TSS	Aorta	Aorta

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