Variant report

Variant	rs536396008
Chromosome Location	chr2:96069209-96069210
allele	A/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	CTCF	chr2:96069180-96069330	GM12869	blood:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
2	CTCF	chr2:96069100-96069250	GM12871	blood:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
3	CTCF	chr2:96069080-96069230	SK-N-SH_RA	brain:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
4	PAX5	chr2:96068845-96069289	GM12878	blood:	n/a	n/a
5	SMC3	chr2:96069052-96069285	GM12878	blood:	n/a	n/a
6	MXI1	chr2:96067894-96069228	HepG2	liver:	n/a	n/a
7	CTCF	chr2:96069100-96069250	GM12870	blood:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
8	CTCF	chr2:96069080-96069230	HepG2	liver:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
9	POLR2A	chr2:96067882-96069296	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr2:96069100-96069250	NHDF-neo	bronchial:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
11	CTCF	chr2:96069180-96069330	GM12864	blood:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
12	EBF1	chr2:96069048-96069306	GM12878	blood:	n/a	chr2:96069233-96069244
13	CTCF	chr2:96069180-96069330	HFF-Myc	foreskin:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
14	CTCF	chr2:96069049-96069288	MCF-7	breast:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
15	MYC	chr2:96067898-96069307	K562	blood:	n/a	n/a
16	SIN3AK20	chr2:96069022-96069256	HepG2	liver:	n/a	n/a
17	CTCF	chr2:96069120-96069270	HA-sp	spinal cord:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
18	POLR2A	chr2:96068926-96069210	K562	blood:	n/a	n/a
19	CTCF	chr2:96069100-96069250	GM12868	blood:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
20	POLR2A	chr2:96067818-96069292	Hela-S3	cervix:	n/a	n/a
21	MYC	chr2:96069109-96069545	MCF10A-Er-Src	breast:	n/a	n/a
22	CTCF	chr2:96069047-96069311	GM12891	blood:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
23	CTCF	chr2:96069060-96069210	HRPEpiC	eye:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
24	POLR2A	chr2:96068862-96069335	U87	brain:	n/a	n/a
25	CTCF	chr2:96069076-96069266	HepG2	liver:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
26	CTCF	chr2:96069080-96069230	AoAF	blood vessel:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
27	CTCF	chr2:96069140-96069290	HCPEpiC	choroid plexus:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
28	CTCF	chr2:96069160-96069310	HMEC	breast:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
29	HEY1	chr2:96067954-96069376	K562	blood:	n/a	chr2:96068433-96068442 chr2:96068435-96068444
30	POLR2A	chr2:96068822-96069297	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr2:96069055-96069288	NHEK	skin:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
32	CTCF	chr2:96069080-96069230	HPF	lung:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
33	POLR2A	chr2:96067878-96069396	K562	blood:	n/a	n/a
34	NRF1	chr2:96069045-96069506	SK-N-SH	brain:	n/a	n/a
35	CTCF	chr2:96069003-96069382	IMR90	lung:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
36	CTCF	chr2:96069120-96069270	HRE	kidney:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
37	CTCF	chr2:96069120-96069270	AG09319	gingival:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
38	MAX	chr2:96068137-96069297	K562	blood:	n/a	n/a
39	POLR2A	chr2:96067726-96069739	HepG2	liver:	n/a	n/a
40	CTCF	chr2:96069120-96069270	AoAF	blood vessel:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
41	CTCF	chr2:96069080-96069230	HMEC	breast:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
42	BHLHE40	chr2:96068276-96069304	HepG2	liver:	n/a	chr2:96068367-96068383
43	ZMIZ1	chr2:96068176-96069229	K562	blood:	n/a	n/a
44	CTCF	chr2:96069080-96069230	AG10803	skin:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
45	CTCF	chr2:96069120-96069270	Caco-2	colon:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
46	RUNX3	chr2:96068984-96069494	GM12878	blood:	n/a	n/a
47	CTCF	chr2:96069120-96069270	HUVEC	blood vessel:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
48	CTCF	chr2:96069140-96069290	AG09319	gingival:	n/a	chr2:96069183-96069196 chr2:96069181-96069197
49	HCFC1	chr2:96067989-96069400	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr2:96069140-96069290	GM12872	blood:	n/a	chr2:96069183-96069196 chr2:96069181-96069197

Variant related genes	Relation type
FAHD2A	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv961449	chr2:96069177-96081253	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96067400-96069400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:96067400-96069600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:96067600-96069400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:96067600-96069600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:96067600-96069600	Active TSS	Fetal Kidney	kidney
6	chr2:96067800-96069400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:96067800-96069400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:96067800-96069400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:96067800-96069400	Active TSS	Brain Hippocampus Middle	brain
10	chr2:96067800-96069400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:96067800-96069400	Active TSS	Colon Smooth Muscle	Colon
12	chr2:96067800-96069400	Active TSS	Fetal Intestine Small	intestine
13	chr2:96067800-96069400	Active TSS	Left Ventricle	heart
14	chr2:96067800-96069400	Active TSS	Right Atrium	heart
15	chr2:96067800-96069400	Active TSS	A549	lung
16	chr2:96067800-96069600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:96067800-96069600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:96067800-96069600	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr2:96067800-96069600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:96067800-96069600	Active TSS	Brain Germinal Matrix	brain
21	chr2:96067800-96069800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:96067800-96069800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:96067800-96069800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr2:96067800-96070000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:96067800-96070000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:96068000-96069400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:96068000-96069400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:96068000-96069400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:96068000-96069400	Active TSS	Fetal Muscle Trunk	muscle
30	chr2:96068000-96069600	Active TSS	Right Ventricle	heart
31	chr2:96068000-96069800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:96068400-96069400	Active TSS	Colonic Mucosa	Colon
33	chr2:96068600-96069400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr2:96068600-96069400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:96068600-96069600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr2:96068600-96069600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:96068800-96069400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr2:96068800-96069400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr2:96068800-96069400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr2:96068800-96069400	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr2:96068800-96069400	Flanking Active TSS	Pancreas	Pancrea
42	chr2:96068800-96069600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:96068800-96069600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr2:96068800-96069600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:96068800-96069600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr2:96068800-96069600	Flanking Active TSS	HUVEC	blood vessel
47	chr2:96068800-96069600	Flanking Active TSS	NH-A	brain
48	chr2:96068800-96069800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr2:96068800-96070000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr2:96068800-96070000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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