Variant report

Variant	rs34023503
Chromosome Location	chr7:56144079-56144080
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	JUND	chr7:56143903-56144821	SK-N-SH	brain:	n/a	chr7:56144690-56144701 chr7:56144690-56144702 chr7:56144692-56144699 chr7:56144691-56144701 chr7:56144691-56144700 chr7:56144692-56144700 chr7:56144692-56144701
2	GATA3	chr7:56144078-56144739	MCF-7	breast:	n/a	n/a
3	MXI1	chr7:56144009-56144798	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56131320..56133312-chr7:56141582..56144695,3	MCF-7	breast:
2	chr7:56031249..56033824-chr7:56141998..56144238,2	MCF-7	breast:
3	chr7:56130207..56133425-chr7:56142360..56145052,4	K562	blood:

Variant related genes	Relation type
SUMF2	TF binding region
ENSG00000146729	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000129103	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10085802	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10253539	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10253680	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12555	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13223519	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13229704	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13233834	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13234504	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13238029	0.91[EUR][1000 genomes]
rs13240361	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13241531	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13247558	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17151447	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2331184	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs33922584	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34154824	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34319969	0.86[ASN][1000 genomes]
rs34334997	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34573211	0.87[EUR][1000 genomes]
rs34822782	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35007015	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35033933	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35058595	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35102507	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35347055	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35506072	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35515485	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35523043	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35581685	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35818005	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35881493	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36044787	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36049923	0.86[ASN][1000 genomes]
rs36148650	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3778868	0.86[ASN][1000 genomes]
rs71543786	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73126344	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs816242	0.83[ASN][1000 genomes]
rs816412	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs816413	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs816415	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
6	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
7	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
8	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
9	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
10	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56131800-56146800	Weak transcription	Fetal Heart	heart
2	chr7:56132400-56145400	Weak transcription	Spleen	Spleen
3	chr7:56133200-56145600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:56133200-56146400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:56133200-56147000	Weak transcription	Fetal Brain Male	brain
6	chr7:56133200-56147000	Weak transcription	Psoas Muscle	Psoas
7	chr7:56133400-56144200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:56133400-56145800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:56133600-56144200	Weak transcription	NHDF-Ad	bronchial
10	chr7:56133600-56145400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:56134000-56152000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:56134000-56167800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:56134200-56167600	Weak transcription	Small Intestine	intestine
14	chr7:56137200-56146000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:56138200-56144200	Weak transcription	Hela-S3	cervix
16	chr7:56138600-56144200	Weak transcription	Fetal Lung	lung
17	chr7:56138600-56144200	Weak transcription	Right Ventricle	heart
18	chr7:56138800-56146800	Weak transcription	Aorta	Aorta
19	chr7:56138800-56146800	Weak transcription	HSMMtube	muscle
20	chr7:56138800-56156200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:56138800-56167600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:56139000-56144200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:56139000-56144200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:56139000-56144200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:56139000-56144200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:56139000-56144200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:56139000-56144200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:56139000-56144200	Weak transcription	A549	lung
29	chr7:56139000-56144200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:56139000-56144400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:56139000-56145400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:56139000-56145600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:56139000-56145600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:56139000-56146800	Weak transcription	HSMM	muscle
35	chr7:56139000-56147000	Weak transcription	NH-A	brain
36	chr7:56139200-56144200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:56139200-56146400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:56139400-56144200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:56139400-56144400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:56139400-56144400	Weak transcription	Lung	lung
41	chr7:56139400-56146000	Weak transcription	Primary B cells from cord blood	blood
42	chr7:56139400-56146000	Weak transcription	Brain Angular Gyrus	brain
43	chr7:56140400-56152000	Strong transcription	Dnd41	blood
44	chr7:56140800-56153000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:56141000-56144200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:56141000-56144200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:56141000-56144200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:56141000-56144400	Weak transcription	Ovary	ovary
49	chr7:56141000-56144400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:56141000-56145600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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