Variant report

Variant	rs35120057
Chromosome Location	chr7:39662686-39662687
allele	-/C
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	chr7:39662642-39663379	HepG2	liver:	n/a	n/a
2	YY1	chr7:39662445-39663523	SK-N-SH_RA	brain:	n/a	chr7:39662807-39662826 chr7:39663473-39663482 chr7:39663474-39663485 chr7:39663040-39663054 chr7:39662812-39662824 chr7:39663146-39663157 chr7:39663477-39663488 chr7:39663495-39663504 chr7:39663498-39663507 chr7:39662802-39662824 chr7:39662813-39662821 chr7:39663476-39663485 chr7:39662815-39662823 chr7:39663028-39663042 chr7:39662814-39662824
3	JUND	chr7:39662456-39663323	H1-hESC	embryonic stem cell:	n/a	chr7:39663142-39663151 chr7:39663137-39663146
4	GABPA	chr7:39662554-39663635	SK-N-SH	brain:	n/a	n/a
5	MAX	chr7:39662446-39663940	ECC-1	luminal epithelium:	n/a	chr7:39662743-39662753 chr7:39662714-39662722
6	YY1	chr7:39662460-39663694	GM12892	blood:	n/a	chr7:39662807-39662826 chr7:39663473-39663482 chr7:39663474-39663485 chr7:39663040-39663054 chr7:39662812-39662824 chr7:39663146-39663157 chr7:39663477-39663488 chr7:39663495-39663504 chr7:39663644-39663655 chr7:39663498-39663507 chr7:39662802-39662824 chr7:39662813-39662821 chr7:39663476-39663485 chr7:39662815-39662823 chr7:39663028-39663042 chr7:39662814-39662824
7	BHLHE40	chr7:39662312-39664819	GM12878	blood:	n/a	chr7:39663497-39663513 chr7:39663776-39663792 chr7:39663770-39663786 chr7:39663467-39663483
8	YY1	chr7:39662425-39663472	GM12878	blood:	n/a	chr7:39662807-39662826 chr7:39663040-39663054 chr7:39662812-39662824 chr7:39663146-39663157 chr7:39662802-39662824 chr7:39662813-39662821 chr7:39662815-39662823 chr7:39663028-39663042 chr7:39662814-39662824
9	RCOR1	chr7:39662602-39664372	K562	blood:	n/a	n/a
10	GABPA	chr7:39662633-39663630	A549	lung:	n/a	n/a
11	YY1	chr7:39662440-39663868	HepG2	liver:	n/a	chr7:39662807-39662826 chr7:39663473-39663482 chr7:39663474-39663485 chr7:39663040-39663054 chr7:39662812-39662824 chr7:39663146-39663157 chr7:39663477-39663488 chr7:39663495-39663504 chr7:39663644-39663655 chr7:39663498-39663507 chr7:39662802-39662824 chr7:39662813-39662821 chr7:39663476-39663485 chr7:39662815-39662823 chr7:39663028-39663042 chr7:39662814-39662824
12	TAF1	chr7:39662633-39663535	A549	lung:	n/a	n/a
13	MXI1	chr7:39662425-39662716	K562	blood:	n/a	n/a
14	GABPA	chr7:39662582-39663670	HL-60	blood:	n/a	n/a
15	YY1	chr7:39662577-39663279	HepG2	liver:	n/a	chr7:39662807-39662826 chr7:39663040-39663054 chr7:39662812-39662824 chr7:39663146-39663157 chr7:39662802-39662824 chr7:39662813-39662821 chr7:39662815-39662823 chr7:39663028-39663042 chr7:39662814-39662824
16	POU2F2	chr7:39662457-39663439	GM12878	blood:	n/a	chr7:39663142-39663154
17	POLR2A	chr7:39662408-39663414	GM12891	blood:	n/a	n/a
18	MAZ	chr7:39662486-39663522	HepG2	liver:	n/a	chr7:39662743-39662753 chr7:39662714-39662722
19	MXI1	chr7:39662512-39663825	HepG2	liver:	n/a	n/a
20	EBF1	chr7:39662438-39662831	GM12878	blood:	n/a	chr7:39662689-39662700
21	TCF7L2	chr7:39662393-39663887	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:39662475-39663875	HepG2	liver:	n/a	n/a
23	TAF7	chr7:39662519-39663451	H1-hESC	embryonic stem cell:	n/a	n/a
24	STAT1	chr7:39662485-39662700	GM12878	blood:	n/a	n/a
25	YY1	chr7:39662590-39663179	GM12892	blood:	n/a	chr7:39662807-39662826 chr7:39663040-39663054 chr7:39662812-39662824 chr7:39663146-39663157 chr7:39662802-39662824 chr7:39662813-39662821 chr7:39662815-39662823 chr7:39663028-39663042 chr7:39662814-39662824
26	MXI1	chr7:39662169-39663832	GM12878	blood:	n/a	n/a
27	MAX	chr7:39662383-39663972	SK-N-SH	brain:	n/a	chr7:39662743-39662753 chr7:39662714-39662722
28	EP300	chr7:39662267-39662783	GM12878	blood:	n/a	n/a
29	GTF2F1	chr7:39662360-39663365	Hela-S3	cervix:	n/a	n/a
30	HEY1	chr7:39662515-39663456	HepG2	liver:	n/a	chr7:39663124-39663139 chr7:39662955-39662964
31	POLR2A	chr7:39662305-39663855	NB4	blood:	n/a	n/a
32	MAX	chr7:39662369-39663902	NB4	blood:	n/a	chr7:39662743-39662753 chr7:39662714-39662722
33	CHD2	chr7:39662583-39663318	K562	blood:	n/a	n/a
34	REST	chr7:39662205-39664044	H1-neurons	neurons:	n/a	chr7:39663136-39663149 chr7:39662958-39662976 chr7:39663151-39663161
35	POLR2A	chr7:39661358-39663450	K562	blood:	n/a	n/a
36	POLR2A	chr7:39661360-39663434	K562	blood:	n/a	n/a
37	POLR2A	chr7:39662492-39663494	HCT-116	colon:	n/a	n/a
38	BHLHE40	chr7:39662571-39663717	HepG2	liver:	n/a	chr7:39663497-39663513 chr7:39663467-39663483
39	POLR2A	chr7:39661961-39663605	U87	brain:	n/a	n/a
40	POLR2A	chr7:39662259-39663436	GM12892	blood:	n/a	n/a
41	ZNF143	chr7:39662572-39663831	GM12878	blood:	n/a	chr7:39663140-39663158 chr7:39663492-39663502 chr7:39663470-39663480 chr7:39663150-39663160 chr7:39663662-39663672 chr7:39663742-39663752
42	HEY1	chr7:39662472-39663464	K562	blood:	n/a	chr7:39663124-39663139 chr7:39662955-39662964
43	POLR2A	chr7:39662644-39663550	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr7:39659839-39663493	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:39662431-39663371	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr7:39662434-39663810	MCF-7	breast:	n/a	chr7:39662743-39662753 chr7:39662714-39662722
47	POLR2A	chr7:39660809-39665213	IMR90	lung:	n/a	n/a
48	MAX	chr7:39662470-39663430	ECC-1	luminal epithelium:	n/a	chr7:39662743-39662753 chr7:39662714-39662722
49	POLR2A	chr7:39662657-39663454	GM10847	blood:	n/a	n/a
50	POLR2A	chr7:39662624-39663604	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:12726248..12727150-chr7:39662597..39663297,2	Hela-S3	cervix:
2	chr7:39616830..39619300-chr7:39660316..39662885,2	K562	blood:
3	chr7:39649814..39652615-chr7:39661583..39664092,3	MCF-7	breast:
4	chr7:39652942..39654975-chr7:39661144..39662912,2	MCF-7	breast:
5	chr7:39661595..39664442-chr7:39724184..39727170,2	MCF-7	breast:
6	chr7:39661404..39663086-chr7:39725958..39728030,2	MCF-7	breast:
7	chr7:39603623..39606050-chr7:39662280..39665105,2	MCF-7	breast:
8	chr7:39660516..39662861-chr7:39772033..39774524,2	K562	blood:
9	chr17:56735362..56737542-chr7:39660335..39663097,2	MCF-7	breast:
10	chr7:39661332..39663000-chr7:39732479..39734683,2	K562	blood:
11	chr7:39660619..39666370-chr7:39771379..39777121,13	MCF-7	breast:
12	chr7:39635256..39637997-chr7:39660350..39662905,2	MCF-7	breast:
13	chr7:39661063..39664836-chr7:39769831..39775766,6	MCF-7	breast:

Variant related genes	Relation type
RALA	TF binding region
ENSG00000231951	Chromatin interaction
ENSG00000122644	Chromatin interaction
ENSG00000188185	Chromatin interaction
ENSG00000227172	Chromatin interaction
ENSG00000241127	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000202077	Chromatin interaction

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	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription 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	24 gene(s)	inside rSNPs	diseases
3	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39661200-39662800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
2	chr7:39661400-39662800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:39661400-39662800	Flanking Active TSS	NH-A	brain
4	chr7:39661600-39662800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:39661600-39663000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:39661600-39664600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:39661800-39662800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr7:39661800-39664400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:39661800-39664600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:39662000-39662800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr7:39662000-39662800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr7:39662000-39662800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:39662000-39662800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:39662000-39662800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:39662000-39662800	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr7:39662000-39664200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:39662000-39664200	Active TSS	A549	lung
18	chr7:39662000-39664400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:39662000-39664400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:39662000-39664600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:39662000-39665200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:39662200-39662800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr7:39662200-39662800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:39662200-39662800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr7:39662200-39662800	Flanking Active TSS	Placenta	Placenta
26	chr7:39662200-39662800	Flanking Active TSS	Fetal Thymus	thymus
27	chr7:39662200-39662800	Flanking Active TSS	HUVEC	blood vessel
28	chr7:39662200-39663000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr7:39662200-39663200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:39662200-39663600	Active TSS	Stomach Smooth Muscle	stomach
31	chr7:39662200-39664200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:39662200-39664200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:39662200-39664200	Active TSS	Placenta Amnion	Placenta Amnion
34	chr7:39662200-39664200	Active TSS	Psoas Muscle	Psoas
35	chr7:39662200-39664200	Active TSS	NHEK	skin
36	chr7:39662200-39664400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:39662200-39664400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:39662200-39664400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:39662200-39664600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:39662200-39664800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr7:39662200-39664800	Active TSS	HMEC	breast
42	chr7:39662400-39662800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:39662400-39662800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr7:39662400-39662800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr7:39662400-39662800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr7:39662400-39662800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr7:39662400-39662800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr7:39662400-39662800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:39662400-39662800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr7:39662400-39662800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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