Variant report

Variant	rs559013906
Chromosome Location	chr7:128046122-128046123
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	POLR2A	chr7:128045569-128046378	HUVEC	blood vessel:	n/a	n/a
2	YY1	chr7:128045538-128046158	HepG2	liver:	n/a	chr7:128046007-128046016 chr7:128046144-128046158 chr7:128046143-128046152 chr7:128046019-128046033 chr7:128046085-128046094
3	EGR1	chr7:128045773-128046522	K562	blood:	n/a	chr7:128046141-128046154 chr7:128046138-128046152 chr7:128046139-128046149 chr7:128046182-128046191 chr7:128046283-128046296 chr7:128046282-128046297
4	MYC	chr7:128045216-128046209	A549	lung:	n/a	n/a
5	MAZ	chr7:128045015-128046571	Hela-S3	cervix:	n/a	n/a
6	TBP	chr7:128045822-128046136	K562	blood:	n/a	n/a
7	CTCF	chr7:128046118-128046301	K562	blood:	n/a	n/a
8	MAX	chr7:128044953-128046164	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:128045567-128046277	HUVEC	blood vessel:	n/a	n/a
10	RAD21	chr7:128046070-128046291	SK-N-SH_RA	brain:	n/a	chr7:128046191-128046204
11	E2F6	chr7:128045540-128046256	K562	blood:	n/a	n/a
12	MAX	chr7:128045164-128046311	HepG2	liver:	n/a	n/a
13	UBTF	chr7:128045624-128046201	K562	blood:	n/a	n/a
14	JUND	chr7:128045836-128046241	K562	blood:	n/a	n/a
15	MAX	chr7:128045033-128046341	NB4	blood:	n/a	n/a
16	CTCF	chr7:128046038-128046356	GM12878	blood:	n/a	n/a
17	ZBTB7A	chr7:128046071-128046327	ECC-1	luminal epithelium:	n/a	n/a
18	MYC	chr7:128045209-128046325	K562	blood:	n/a	n/a
19	IRF1	chr7:128045970-128046225	K562	blood:	n/a	n/a
20	CTCF	chr7:128046118-128046294	GM19240	blood:	n/a	n/a
21	BHLHE40	chr7:128045540-128046289	K562	blood:	n/a	chr7:128045656-128045672 chr7:128046012-128046028
22	MAX	chr7:128044919-128046296	MCF-7	breast:	n/a	n/a
23	MAX	chr7:128044941-128046323	SK-N-SH	brain:	n/a	n/a
24	MAX	chr7:128045235-128046317	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAZ	chr7:128045026-128046705	IMR90	lung:	n/a	n/a
26	MAX	chr7:128045216-128046316	K562	blood:	n/a	n/a
27	POLR2A	chr7:128045778-128046331	K562	blood:	n/a	n/a
28	RUNX3	chr7:128046070-128046289	GM12878	blood:	n/a	n/a
29	RCOR1	chr7:128045957-128046191	K562	blood:	n/a	n/a
30	RAD21	chr7:128045982-128046294	H1-hESC	embryonic stem cell:	n/a	chr7:128046191-128046204
31	CTCF	chr7:128046020-128046170	GM12864	blood:	n/a	n/a
32	HDAC2	chr7:128045804-128046279	K562	blood:	n/a	n/a
33	CTCF	chr7:128046080-128046230	HMEC	breast:	n/a	n/a
34	CTCF	chr7:128045723-128046506	K562	blood:	n/a	chr7:128046389-128046402
35	CTCF	chr7:128046120-128046270	GM12869	blood:	n/a	n/a
36	MAX	chr7:128045231-128046325	H1-hESC	embryonic stem cell:	n/a	n/a
37	EGR1	chr7:128045942-128046269	GM12878	blood:	n/a	chr7:128046141-128046154 chr7:128046138-128046152 chr7:128046139-128046149 chr7:128046182-128046191
38	CBX3	chr7:128045714-128046298	K562	blood:	n/a	n/a
39	CTCF	chr7:128046080-128046230	GM12871	blood:	n/a	n/a
40	POLR2A	chr7:128045103-128046140	GM18505	blood:	n/a	n/a
41	POLR2A	chr7:128044958-128046324	Raji	blood:	n/a	n/a
42	CTCF	chr7:128046081-128046256	HepG2	liver:	n/a	n/a
43	FOXP2	chr7:128045669-128046322	PFSK-1	brain:	n/a	n/a
44	MYC	chr7:128045876-128046182	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:128045580-128046231	HCT-116	colon:	n/a	n/a
46	MAX	chr7:128044754-128046287	K562	blood:	n/a	n/a
47	PML	chr7:128045742-128046144	K562	blood:	n/a	n/a
48	ZBTB7A	chr7:128045087-128046327	K562	blood:	n/a	n/a
49	PAX5	chr7:128045596-128046288	GM12892	blood:	n/a	n/a
50	POLR2A	chr7:128044287-128046496	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128045745..128046435-chr8:33342041..33342706,2	Hela-S3	cervix:
2	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
3	chr7:127980838..127984024-chr7:128045373..128047689,4	K562	blood:
4	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
5	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:
6	chr7:128045908..128047608-chr7:128501715..128503909,2	K562	blood:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000106344	Chromatin interaction
ENSG00000128524	Chromatin interaction
ENSG00000198042	Chromatin interaction
ENSG00000242902	Chromatin interaction
ENSG00000242588	Chromatin interaction
ENSG00000273270	Chromatin interaction
ENSG00000238750	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv515737	chr7:128044035-128050417	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3355278	chr7:128044741-128047289	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv3391700	chr7:128045116-128047314	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128044600-128046400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:128044800-128046400	Active TSS	HSMM	muscle
3	chr7:128045000-128046400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:128045000-128046600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:128045000-128046600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr7:128045200-128046200	Active TSS	Gastric	stomach
7	chr7:128045200-128046200	Active TSS	Small Intestine	intestine
8	chr7:128045200-128046400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:128045200-128046400	Active TSS	Aorta	Aorta
10	chr7:128045200-128046400	Active TSS	Psoas Muscle	Psoas
11	chr7:128045200-128046400	Active TSS	HSMMtube	muscle
12	chr7:128045200-128046400	Active TSS	Osteobl	bone
13	chr7:128045200-128047000	Active TSS	Fetal Kidney	kidney
14	chr7:128045400-128046400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:128045400-128046400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:128045400-128046400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:128045400-128046400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:128045400-128046400	Active TSS	Colon Smooth Muscle	Colon
19	chr7:128045400-128046400	Weak transcription	Fetal Brain Male	brain
20	chr7:128045400-128046400	Active TSS	A549	lung
21	chr7:128045400-128046400	Active TSS	GM12878-XiMat	blood
22	chr7:128045400-128046600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr7:128045400-128046600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:128045400-128046600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:128045400-128046600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr7:128045400-128046600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:128045400-128046600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:128045400-128046600	Active TSS	Brain Anterior Caudate	brain
29	chr7:128045400-128046600	Active TSS	Right Atrium	heart
30	chr7:128045400-128046600	Active TSS	HepG2	liver
31	chr7:128045400-128047200	Active TSS	Hela-S3	cervix
32	chr7:128045600-128046200	Active TSS	Thymus	Thymus
33	chr7:128045600-128046400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:128045600-128046400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:128045600-128046400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:128045600-128046400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr7:128045600-128046400	Active TSS	Primary monocytes fromperipheralblood	blood
38	chr7:128045600-128046400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr7:128045600-128046400	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr7:128045600-128046400	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr7:128045600-128046400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr7:128045600-128046400	Active TSS	Duodenum Mucosa	Duodenum
43	chr7:128045600-128046400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr7:128045600-128046400	Active TSS	Fetal Intestine Small	intestine
45	chr7:128045600-128046400	Active TSS	Fetal Stomach	stomach
46	chr7:128045600-128046400	Active TSS	Ovary	ovary
47	chr7:128045600-128046400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr7:128045600-128046400	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr7:128045600-128046400	Active TSS	Rectal Smooth Muscle	rectum
50	chr7:128045600-128046400	Active TSS	HUVEC	blood vessel

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