Variant report

Variant	rs567307775
Chromosome Location	chr9:96338528-96338529
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	POLR2A	chr9:96338013-96338945	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr9:96337939-96339819	K562	blood:	n/a	n/a
3	POLR2A	chr9:96338026-96339300	Raji	blood:	n/a	n/a
4	ZMIZ1	chr9:96338128-96338560	K562	blood:	n/a	n/a
5	POLR2A	chr9:96338070-96338556	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr9:96337905-96338631	U87	brain:	n/a	n/a
7	POLR2A	chr9:96337911-96338631	U87	brain:	n/a	n/a
8	UBTF	chr9:96338001-96338809	K562	blood:	n/a	n/a
9	POLR2A	chr9:96337940-96340262	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr9:96337579-96339836	GM18505	blood:	n/a	n/a
11	YY1	chr9:96338495-96338927	GM12891	blood:	n/a	chr9:96338851-96338865
12	HCFC1	chr9:96338107-96338785	K562	blood:	n/a	n/a
13	JUND	chr9:96338470-96338954	A549	lung:	n/a	n/a
14	POLR2A	chr9:96337825-96340014	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:96337916-96339960	GM12892	blood:	n/a	n/a
16	POLR2A	chr9:96337483-96339925	K562	blood:	n/a	n/a
17	POLR2A	chr9:96337949-96338792	Hela-S3	cervix:	n/a	n/a
18	TBP	chr9:96338008-96339257	K562	blood:	n/a	n/a
19	YY1	chr9:96337992-96339507	K562	blood:	n/a	chr9:96339333-96339347 chr9:96339339-96339348 chr9:96338199-96338213 chr9:96339459-96339473 chr9:96338851-96338865 chr9:96339051-96339063 chr9:96339360-96339374 chr9:96339370-96339384
20	POLR2A	chr9:96337960-96338672	SK-N-MC	brain:	n/a	n/a
21	MAZ	chr9:96337939-96339226	K562	blood:	n/a	chr9:96338698-96338708
22	UBTF	chr9:96337990-96340266	K562	blood:	n/a	n/a
23	POLR2A	chr9:96337865-96340314	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr9:96338408-96338908	HCT-116	colon:	n/a	n/a
25	POLR2A	chr9:96338111-96339198	HepG2	liver:	n/a	n/a
26	MAZ	chr9:96338140-96339202	Hela-S3	cervix:	n/a	chr9:96338698-96338708
27	POLR2A	chr9:96338065-96339323	H1-neurons	neurons:	n/a	n/a
28	CCNT2	chr9:96338204-96339839	K562	blood:	n/a	chr9:96339670-96339679
29	TAF1	chr9:96337894-96338931	K562	blood:	n/a	n/a
30	YY1	chr9:96338160-96338532	GM12878	blood:	n/a	chr9:96338199-96338213
31	TAF1	chr9:96337908-96339329	ECC-1	luminal epithelium:	n/a	n/a
32	REST	chr9:96337337-96340269	H1-neurons	neurons:	n/a	chr9:96339630-96339643 chr9:96339814-96339832 chr9:96338320-96338330
33	POLR2A	chr9:96337533-96339108	IMR90	lung:	n/a	n/a
34	MAZ	chr9:96337511-96340494	IMR90	lung:	n/a	chr9:96339336-96339346 chr9:96339537-96339547 chr9:96338698-96338708 chr9:96340026-96340036
35	POLR2A	chr9:96337948-96338958	GM12878	blood:	n/a	n/a
36	POLR2A	chr9:96337909-96338917	HUVEC	blood vessel:	n/a	n/a
37	STAT5A	chr9:96337905-96338667	GM12878	blood:	n/a	chr9:96338339-96338351
38	POLR2A	chr9:96338423-96339231	A549	lung:	n/a	n/a
39	POLR2A	chr9:96338104-96339338	GM12878	blood:	n/a	n/a
40	HEY1	chr9:96338013-96338923	K562	blood:	n/a	chr9:96338888-96338903 chr9:96338693-96338708
41	POLR2A	chr9:96337981-96339870	NB4	blood:	n/a	n/a
42	POLR2A	chr9:96338087-96338951	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr9:96337973-96339977	GM15510	blood:	n/a	n/a
44	POLR2A	chr9:96338002-96339262	GM12878	blood:	n/a	n/a
45	POLR2A	chr9:96338384-96338849	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr9:96338108-96339307	Gliobla	brain:	n/a	n/a
47	POLR2A	chr9:96337746-96339956	GM19099	blood:	n/a	n/a
48	POLR2A	chr9:96337957-96339503	A549	lung:	n/a	n/a
49	POLR2A	chr9:96338517-96339227	K562	blood:	n/a	n/a
50	SIN3A	chr9:96337438-96339212	H1-hESC	embryonic stem cell:	n/a	chr9:96337571-96337582

No.	Distal block	Cell Line	Cell type
1	chr8:101964530..101966057-chr9:96338377..96341052,2	MCF-7	breast:
2	chr5:43121431..43122251-chr9:96338410..96338951,2	Hela-S3	cervix:
3	chr15:64672393..64674955-chr9:96338463..96341441,2	MCF-7	breast:
4	chr9:96213158..96214882-chr9:96338001..96341678,3	K562	blood:
5	chr9:96211528..96214948-chr9:96337573..96343441,10	MCF-7	breast:
6	chr9:96211672..96218862-chr9:96335264..96341672,16	MCF-7	breast:
7	chr9:96337024..96339848-chr9:96617971..96619932,2	MCF-7	breast:
8	chr9:95895154..95898000-chr9:96338001..96340609,3	MCF-7	breast:
9	chr9:95856094..95858375-chr9:96337008..96340445,3	MCF-7	breast:
10	chr8:144819610..144821971-chr9:96337841..96340310,2	MCF-7	breast:
11	chr14:52455551..52457081-chr9:96338294..96340039,2	MCF-7	breast:
12	chr9:96337657..96339290-chr9:96927321..96930180,2	K562	blood:
13	chr9:95894803..95898160-chr9:96337820..96340366,3	MCF-7	breast:
14	chr9:96214499..96217099-chr9:96338317..96340265,2	K562	blood:

Variant related genes	Relation type
PHF2	TF binding region
ENSG00000223446	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000269946	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000231990	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000166803	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000087302	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041803	chr9:96299639-96342013	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv824984	chr9:96310933-96375022	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv824985	chr9:96337735-96340349	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	esv3359621	chr9:96337881-96340629	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3422729	chr9:96337956-96340504	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 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	chr9:96337600-96339600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr9:96337600-96340000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:96337600-96340000	Active TSS	Ovary	ovary
4	chr9:96337600-96340000	Active TSS	A549	lung
5	chr9:96337600-96340200	Active TSS	Aorta	Aorta
6	chr9:96337600-96340400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr9:96337600-96340400	Active TSS	Fetal Kidney	kidney
8	chr9:96337600-96340600	Active TSS	HSMMtube	muscle
9	chr9:96337600-96341000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr9:96337800-96338600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr9:96337800-96339800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:96337800-96339800	Active TSS	Right Atrium	heart
13	chr9:96337800-96339800	Active TSS	Osteobl	bone
14	chr9:96337800-96340000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:96337800-96340000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:96337800-96340000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:96337800-96340000	Active TSS	Colon Smooth Muscle	Colon
18	chr9:96337800-96340000	Active TSS	Fetal Lung	lung
19	chr9:96337800-96340000	Active TSS	HSMM	muscle
20	chr9:96337800-96340000	Active TSS	NHDF-Ad	bronchial
21	chr9:96337800-96340200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:96337800-96340200	Active TSS	Small Intestine	intestine
23	chr9:96337800-96340400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr9:96338000-96338600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:96338000-96338600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr9:96338000-96338600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:96338000-96338600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr9:96338000-96338600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr9:96338000-96338600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr9:96338000-96338600	Active TSS	Stomach Mucosa	stomach
31	chr9:96338000-96338800	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr9:96338000-96338800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr9:96338000-96339600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:96338000-96339600	Active TSS	Primary hematopoietic stem cells	blood
35	chr9:96338000-96339600	Active TSS	Spleen	Spleen
36	chr9:96338000-96339800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:96338000-96339800	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr9:96338000-96339800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr9:96338000-96339800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:96338000-96339800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:96338000-96339800	Active TSS	Colonic Mucosa	Colon
42	chr9:96338000-96339800	Active TSS	Fetal Muscle Leg	muscle
43	chr9:96338000-96339800	Active TSS	Fetal Stomach	stomach
44	chr9:96338000-96339800	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr9:96338000-96339800	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr9:96338000-96339800	Active TSS	Hela-S3	cervix
47	chr9:96338000-96339800	Active TSS	NH-A	brain
48	chr9:96338000-96340000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:96338000-96340000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:96338000-96340000	Active TSS	HUES6 Cell Line	embryonic stem cell

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