Variant report

Variant	rs149218467
Chromosome Location	chr7:26239922-26239923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:460)
CpG islands
(count:0)
Chromatin interactive
region (count:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:26239159-26242217	ECC-1	luminal epithelium:	n/a	chr7:26241766-26241782
2	TAF1	chr7:26239110-26242436	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr7:26239193-26240555	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:26238932-26242189	Hela-S3	cervix:	n/a	n/a
5	GTF2B	chr7:26239378-26241589	K562	blood:	n/a	n/a
6	MYC	chr7:26239148-26242431	K562	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
7	GABPA	chr7:26239339-26241255	MCF-7	breast:	n/a	n/a
8	JUND	chr7:26238674-26242523	K562	blood:	n/a	n/a
9	EP300	chr7:26239527-26241570	HepG2	liver:	n/a	n/a
10	ELK4	chr7:26239516-26241058	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr7:26239626-26242130	A549	lung:	n/a	n/a
12	TEAD4	chr7:26238916-26240647	ECC-1	luminal epithelium:	n/a	n/a
13	TAF7	chr7:26237656-26242650	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr7:26239789-26240546	GM12891	blood:	n/a	n/a
15	STAT2	chr7:26239632-26241479	K562	blood:	n/a	chr7:26241205-26241217
16	GABPA	chr7:26239114-26241741	MCF-7	breast:	n/a	n/a
17	CEBPD	chr7:26239242-26241690	K562	blood:	n/a	n/a
18	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
19	MAX	chr7:26238972-26242566	NB4	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
20	STAT5A	chr7:26239000-26240529	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:26239155-26242088	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:26237775-26240495	A549	lung:	n/a	n/a
24	TBP	chr7:26239483-26241626	GM12878	blood:	n/a	n/a
25	SMC3	chr7:26239863-26239931	K562	blood:	n/a	n/a
26	MYC	chr7:26239702-26240482	MCF-7	breast:	n/a	n/a
27	GTF2F1	chr7:26239249-26241602	K562	blood:	n/a	n/a
28	MAX	chr7:26238798-26242456	A549	lung:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
29	EGR1	chr7:26239465-26241553	ECC-1	luminal epithelium:	n/a	chr7:26239784-26239798
30	RCOR1	chr7:26239516-26241719	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr7:26239752-26240510	GM12878	blood:	n/a	n/a
32	GTF2F1	chr7:26239441-26241535	H1-hESC	embryonic stem cell:	n/a	n/a
33	REST	chr7:26239803-26240499	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr7:26237645-26241724	SK-N-SH	brain:	n/a	n/a
35	TEAD4	chr7:26238529-26241180	K562	blood:	n/a	n/a
36	JUND	chr7:26239682-26240152	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr7:26237748-26241705	U87	brain:	n/a	n/a
38	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:26238834-26242876	HepG2	liver:	n/a	n/a
40	TAF1	chr7:26239803-26240530	GM12892	blood:	n/a	n/a
41	POLR2A	chr7:26238870-26242222	HL-60	blood:	n/a	n/a
42	MAZ	chr7:26238871-26242525	K562	blood:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
43	MAZ	chr7:26238926-26242354	IMR90	lung:	n/a	chr7:26241999-26242009 chr7:26241769-26241778
44	TEAD4	chr7:26239285-26241557	ECC-1	luminal epithelium:	n/a	n/a
45	HEY1	chr7:26238694-26242136	HepG2	liver:	n/a	chr7:26241839-26241854 chr7:26242035-26242050 chr7:26241887-26241902
46	POLR2A	chr7:26237704-26243017	GM12878	blood:	n/a	n/a
47	SIX5	chr7:26239292-26241163	A549	lung:	n/a	n/a
48	SP1	chr7:26239745-26241511	H1-hESC	embryonic stem cell:	n/a	chr7:26241204-26241218 chr7:26241355-26241369
49	SIN3AK20	chr7:26238793-26242579	SK-N-SH	brain:	n/a	n/a
50	BHLHE40	chr7:26239612-26242521	GM12878	blood:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:46465571..46466541-chr7:26239658..26240354,3	Hela-S3	cervix:
2	chr3:130612324..130613315-chr7:26239802..26240770,2	Hela-S3	cervix:
3	chr7:26239909..26240674-chr9:123605136..123605907,2	Hela-S3	cervix:
4	chr7:26124079..26126684-chr7:26237086..26240273,4	MCF-7	breast:
5	chr7:26238730..26241133-chr7:139024277..139026837,2	K562	blood:
6	chr2:148601625..148602254-chr7:26239829..26240378,2	NB4	blood:
7	chr3:161087820..161090854-chr7:26238154..26241381,3	MCF-7	breast:
8	chr17:73775441..73776232-chr7:26239624..26240748,3	Hela-S3	cervix:
9	chr7:26238913..26240940-chr7:26408998..26410990,2	MCF-7	breast:
10	chr17:41322356..41323038-chr7:26239670..26240376,2	Hela-S3	cervix:
11	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:
12	chr7:25897759..25900219-chr7:26237473..26240299,2	MCF-7	breast:
13	chr1:32706092..32706733-chr7:26239871..26240732,2	Hela-S3	cervix:
14	chr17:79849226..79850154-chr7:26239906..26240558,2	Hela-S3	cervix:
15	chr10:43901751..43904156-chr7:26239345..26241405,2	K562	blood:
16	chr15:91260025..91260965-chr7:26239886..26240499,2	Hela-S3	cervix:
17	chr7:26239911..26241819-chr7:26331558..26335355,4	K562	blood:
18	chr7:26212301..26214165-chr7:26238438..26240076,2	MCF-7	breast:
19	chr3:195808089..195808909-chr7:26239810..26240342,2	Hela-S3	cervix:
20	chr15:65240582..65241132-chr7:26239339..26240082,2	Hela-S3	cervix:
21	chr7:26228674..26229248-chr7:26239723..26240337,2	Hela-S3	cervix:
22	chr7:26239115..26241411-chr7:26331558..26333591,3	K562	blood:
23	chr5:137686616..137688749-chr7:26238842..26240565,2	MCF-7	breast:
24	chr19:2475688..2476509-chr7:26239511..26240463,2	Hela-S3	cervix:
25	chr19:49121941..49122466-chr7:26239392..26240359,2	Hela-S3	cervix:
26	chr2:26467473..26468029-chr7:26239534..26240304,2	Hela-S3	cervix:
27	chr1:28835598..28838005-chr7:26238948..26241176,2	K562	blood:
28	chr2:11294716..11295342-chr7:26239803..26240689,2	Hela-S3	cervix:
29	chr7:26238387..26240189-chr7:26396014..26397576,2	MCF-7	breast:
30	chr7:26238011..26242916-chr7:26400117..26407916,12	MCF-7	breast:
31	chr11:47290636..47291503-chr7:26239910..26240778,2	Hela-S3	cervix:
32	chr11:2922805..2923664-chr7:26239878..26240792,2	Hela-S3	cervix:
33	chr5:271223..272200-chr7:26239473..26240556,4	Hela-S3	cervix:
34	chr6:35435995..35436585-chr7:26239889..26240720,2	HCT-116	colon:
35	chr4:83294479..83295231-chr7:26239827..26240434,2	NB4	blood:
36	chr7:26206391..26208295-chr7:26237571..26240360,2	MCF-7	breast:
37	chr5:131892889..131893622-chr7:26239822..26240389,2	Hela-S3	cervix:
38	chr10:32344550..32345441-chr7:26239898..26240496,2	Hela-S3	cervix:
39	chr1:89149775..89150423-chr7:26239336..26240301,2	Hela-S3	cervix:
40	chr7:26238752..26241126-chr7:26401530..26405700,5	MCF-7	breast:
41	chr6:17705801..17708591-chr7:26239203..26241423,2	K562	blood:
42	chr22:43010840..43011566-chr7:26239854..26240407,2	Hela-S3	cervix:
43	chr7:26239743..26240406-chr9:20683808..20684602,2	NB4	blood:
44	chr17:56707690..56710549-chr7:26238057..26243004,5	MCF-7	breast:
45	chr7:26239878..26240463-chr7:116593578..116594221,2	Hela-S3	cervix:
46	chr7:26238958..26239930-chrX:49022734..49023422,2	Hela-S3	cervix:
47	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
48	chr2:105654731..105655647-chr7:26239723..26240386,2	Hela-S3	cervix:
49	chr7:26238021..26240209-chr7:26414170..26416928,2	MCF-7	breast:
50	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:

No data

Variant related genes	Relation type
CBX3	TF binding region
HNRNPA2B1	TF binding region
ENSG00000174004	Chromatin interaction
ENSG00000063177	Chromatin interaction
ENSG00000227071	Chromatin interaction
ENSG00000100227	Chromatin interaction
ENSG00000163964	Chromatin interaction
ENSG00000095794	Chromatin interaction
ENSG00000248925	Chromatin interaction
ENSG00000249915	Chromatin interaction
ENSG00000197299	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000121989	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000084733	Chromatin interaction
ENSG00000113522	Chromatin interaction
ENSG00000141552	Chromatin interaction
ENSG00000224509	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000269955	Chromatin interaction
ENSG00000095261	Chromatin interaction
ENSG00000227477	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000235159	Chromatin interaction
ENSG00000120733	Chromatin interaction
ENSG00000188352	Chromatin interaction
ENSG00000164898	Chromatin interaction
ENSG00000099860	Chromatin interaction
ENSG00000146963	Chromatin interaction
ENSG00000220785	Chromatin interaction
ENSG00000170759	Chromatin interaction
ENSG00000188554	Chromatin interaction
ENSG00000086015	Chromatin interaction
ENSG00000101109	Chromatin interaction
ENSG00000272269	Chromatin interaction
ENSG00000017260	Chromatin interaction
ENSG00000259736	Chromatin interaction
ENSG00000226752	Chromatin interaction
ENSG00000199085	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000183684	Chromatin interaction
ENSG00000138029	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000145860	Chromatin interaction
ENSG00000267002	Chromatin interaction
ENSG00000225792	Chromatin interaction
ENSG00000084754	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000138668	Chromatin interaction
ENSG00000065243	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000230534	Chromatin interaction
ENSG00000110628	Chromatin interaction
ENSG00000124789	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000050344	Chromatin interaction

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	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887850	chr7:26236235-26244365	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv606459	chr7:26236933-26243108	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	139 gene(s)	inside rSNPs	n/a
6	nsv887852	chr7:26236933-26244365	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
7	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
8	nsv887854	chr7:26238100-26248965	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	136 gene(s)	inside rSNPs	n/a
9	nsv606460	chr7:26239704-26243108	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	131 gene(s)	inside rSNPs	n/a
10	esv3326278	chr7:26239847-26240161	Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	100 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:26234200-26240400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
3	chr7:26234800-26240000	Active TSS	Right Atrium	heart
4	chr7:26234800-26240200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
5	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:26236600-26243600	Active TSS	Right Ventricle	heart
7	chr7:26236800-26242600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:26237000-26243000	Active TSS	Ovary	ovary
9	chr7:26237000-26243600	Active TSS	Aorta	Aorta
10	chr7:26237000-26244400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:26237200-26242200	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr7:26237200-26242400	Active TSS	Colonic Mucosa	Colon
14	chr7:26237200-26242800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr7:26237200-26243400	Active TSS	Fetal Muscle Leg	muscle
16	chr7:26237200-26244000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:26237200-26244400	Active TSS	Fetal Intestine Small	intestine
18	chr7:26237200-26244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:26237200-26245000	Active TSS	Thymus	Thymus
20	chr7:26237400-26240000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:26237400-26242600	Active TSS	Brain Angular Gyrus	brain
22	chr7:26237400-26242600	Active TSS	Brain Anterior Caudate	brain
23	chr7:26237400-26242600	Active TSS	Brain Hippocampus Middle	brain
24	chr7:26237400-26242600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:26237400-26242600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr7:26237400-26242600	Active TSS	Fetal Kidney	kidney
27	chr7:26237400-26242600	Active TSS	Stomach Smooth Muscle	stomach
28	chr7:26237400-26242600	Active TSS	NHLF	lung
29	chr7:26237400-26242800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:26237400-26243000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:26237400-26243000	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:26237400-26243400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:26237400-26244000	Active TSS	Duodenum Mucosa	Duodenum
34	chr7:26237400-26244000	Active TSS	Fetal Intestine Large	intestine
35	chr7:26237400-26244200	Active TSS	Fetal Stomach	stomach
36	chr7:26237400-26244200	Active TSS	Psoas Muscle	Psoas
37	chr7:26237400-26244600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:26237400-26244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:26237400-26244800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:26237600-26242200	Active TSS	Liver	Liver
41	chr7:26237600-26242400	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr7:26237600-26242400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:26237600-26242400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr7:26237600-26242400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:26237600-26242400	Active TSS	Adipose Nuclei	Adipose
46	chr7:26237600-26242400	Active TSS	Brain Cingulate Gyrus	brain
47	chr7:26237600-26242400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:26237600-26242400	Active TSS	Brain Substantia Nigra	brain
49	chr7:26237600-26242400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:26237600-26242600	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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