Variant report

Variant	rs35850770
Chromosome Location	chr7:56019350-56019351
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	MAX	chr7:56019260-56020321	HepG2	liver:	n/a	n/a
2	TAF1	chr7:56019344-56019866	K562	blood:	n/a	n/a
3	ATF2	chr7:56019330-56019830	GM12878	blood:	n/a	n/a
4	MAX	chr7:56019340-56019885	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:56019340-56019490	Caco-2	colon:	n/a	n/a
6	NR2F2	chr7:56019258-56019925	MCF-7	breast:	n/a	n/a
7	POLR2A	chr7:56019319-56019828	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP1	chr7:56019315-56020002	HCT-116	colon:	n/a	chr7:56019470-56019480 chr7:56019471-56019480 chr7:56019470-56019479 chr7:56019872-56019885 chr7:56019469-56019481 chr7:56019469-56019481 chr7:56019849-56019858 chr7:56019471-56019480 chr7:56019470-56019480
9	MAX	chr7:56019318-56020146	SK-N-SH	brain:	n/a	n/a
10	MYC	chr7:56019338-56020054	A549	lung:	n/a	n/a
11	BHLHE40	chr7:56019340-56019922	GM12878	blood:	n/a	chr7:56019863-56019879
12	SP1	chr7:56019255-56019838	H1-hESC	embryonic stem cell:	n/a	chr7:56019470-56019480 chr7:56019471-56019480 chr7:56019470-56019479 chr7:56019469-56019481 chr7:56019469-56019481 chr7:56019471-56019480 chr7:56019470-56019480
13	E2F6	chr7:56019337-56019974	A549	lung:	n/a	n/a
14	TAF1	chr7:56019322-56019874	ECC-1	luminal epithelium:	n/a	n/a
15	TBP	chr7:56019317-56019896	GM12878	blood:	n/a	n/a
16	MXI1	chr7:56019318-56020219	IMR90	lung:	n/a	chr7:56019595-56019604
17	RCOR1	chr7:56019345-56020194	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:56019316-56019896	A549	lung:	n/a	n/a
19	STAT5A	chr7:56019336-56019794	K562	blood:	n/a	n/a
20	TCF12	chr7:56019321-56020212	ECC-1	luminal epithelium:	n/a	chr7:56019594-56019604
21	MAX	chr7:56019272-56020031	HepG2	liver:	n/a	n/a
22	FOSL2	chr7:56019292-56019757	HepG2	liver:	n/a	n/a
23	CHD2	chr7:56019334-56020151	GM12878	blood:	n/a	n/a
24	CEBPB	chr7:56019347-56020040	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr7:56019331-56019592	HepG2	liver:	n/a	n/a
26	POLR2A	chr7:56019284-56019958	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr7:56019221-56019842	HEK293	kidney:	n/a	n/a
28	NFIC	chr7:56019337-56019831	HepG2	liver:	n/a	n/a
29	SIN3AK20	chr7:56019324-56019895	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr7:56019185-56020092	PFSK-1	brain:	n/a	n/a
31	TEAD4	chr7:56019349-56019827	HepG2	liver:	n/a	n/a
32	TBP	chr7:56019313-56020072	H1-hESC	embryonic stem cell:	n/a	n/a
33	RCOR1	chr7:56019275-56020313	IMR90	lung:	n/a	n/a
34	ELF1	chr7:56019325-56020114	GM12878	blood:	n/a	n/a
35	MYC	chr7:56019345-56020256	K562	blood:	n/a	n/a
36	CREB1	chr7:56019326-56020178	HepG2	liver:	n/a	chr7:56019560-56019573
37	CREB1	chr7:56019285-56020153	K562	blood:	n/a	chr7:56019560-56019573
38	CREB1	chr7:56019265-56019862	ECC-1	luminal epithelium:	n/a	chr7:56019560-56019573
39	SRF	chr7:56019347-56019741	K562	blood:	n/a	n/a
40	TAF1	chr7:56019345-56019762	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr7:56019267-56020448	SK-N-SH	brain:	n/a	chr7:56019595-56019604
42	MAX	chr7:56019291-56020143	GM12878	blood:	n/a	n/a
43	ATF1	chr7:56019350-56020014	K562	blood:	n/a	n/a
44	POLR2A	chr7:56019210-56019846	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr7:56019281-56020171	GM19099	blood:	n/a	n/a
46	POLR2A	chr7:56019290-56019945	MCF-7	breast:	n/a	n/a
47	MAX	chr7:56019324-56019909	K562	blood:	n/a	n/a
48	MAX	chr7:56019310-56019991	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr7:56019193-56019931	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr7:56019346-56020291	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
2	chr7:56018384..56020889-chr7:56129856..56132224,2	K562	blood:
3	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
4	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:
5	chr7:56018165..56022272-chr7:56129856..56132253,4	K562	blood:

Variant related genes	Relation type
GBAS	TF binding region
MRPS17	TF binding region
ENSG00000129103	Chromatin interaction
ENSG00000146729	Chromatin interaction
ENSG00000146731	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10234801	1.00[MKK][hapmap]
rs11973407	0.96[MKK][hapmap]
rs28607542	1.00[MKK][hapmap]
rs34154824	0.98[MKK][hapmap]
rs34602500	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv981772	chr7:56009678-56020897	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56007800-56019400	Weak transcription	Fetal Brain Male	brain
2	chr7:56018400-56019600	Active TSS	HepG2	liver
3	chr7:56018400-56020000	Active TSS	Placenta	Placenta
4	chr7:56018400-56020400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:56018600-56020600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:56018600-56020800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:56018800-56019800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr7:56019000-56019400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:56019000-56019400	Active TSS	Fetal Muscle Trunk	muscle
10	chr7:56019000-56019600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr7:56019000-56019600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:56019000-56019600	Active TSS	Adipose Nuclei	Adipose
13	chr7:56019000-56019600	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr7:56019000-56019600	Active TSS	Dnd41	blood
15	chr7:56019000-56019800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:56019000-56019800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:56019000-56019800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:56019000-56019800	Active TSS	Brain Angular Gyrus	brain
19	chr7:56019000-56019800	Active TSS	Stomach Smooth Muscle	stomach
20	chr7:56019000-56020000	Active TSS	Primary T cells from cord blood	blood
21	chr7:56019000-56020000	Active TSS	Brain Anterior Caudate	brain
22	chr7:56019000-56020000	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:56019000-56020000	Active TSS	Esophagus	oesophagus
24	chr7:56019000-56020000	Active TSS	Fetal Brain Female	brain
25	chr7:56019000-56020000	Active TSS	Fetal Muscle Leg	muscle
26	chr7:56019000-56020000	Active TSS	Thymus	Thymus
27	chr7:56019000-56020200	Active TSS	Brain Germinal Matrix	brain
28	chr7:56019000-56020200	Active TSS	Psoas Muscle	Psoas
29	chr7:56019000-56020200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:56019000-56020400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:56019000-56020400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:56019000-56020400	Active TSS	Duodenum Mucosa	Duodenum
33	chr7:56019000-56020400	Active TSS	Fetal Intestine Small	intestine
34	chr7:56019000-56020400	Active TSS	Fetal Kidney	kidney
35	chr7:56019000-56020400	Active TSS	Rectal Smooth Muscle	rectum
36	chr7:56019000-56020400	Active TSS	A549	lung
37	chr7:56019000-56020400	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr7:56019000-56020600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:56019000-56020600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:56019000-56020800	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr7:56019000-56020800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:56019200-56019400	Active TSS	Primary hematopoietic stem cells	blood
43	chr7:56019200-56019400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:56019200-56019600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:56019200-56019600	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr7:56019200-56019600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:56019200-56019600	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:56019200-56019800	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr7:56019200-56019800	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:56019200-56019800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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