Variant report

Variant	rs10257315
Chromosome Location	chr7:139471997-139471998
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	FOXA1	chr7:139471932-139472337	HepG2	liver:	n/a	chr7:139472190-139472205
2	CEBPB	chr7:139471841-139472473	A549	lung:	n/a	chr7:139472246-139472263 chr7:139472106-139472117 chr7:139472174-139472185
3	JUN	chr7:139471972-139472222	HepG2	liver:	n/a	n/a
4	HDAC2	chr7:139471923-139472274	HepG2	liver:	n/a	n/a
5	FOXA1	chr7:139471863-139472241	HepG2	liver:	n/a	chr7:139472190-139472205
6	CEBPB	chr7:139471943-139472293	A549	lung:	n/a	chr7:139472246-139472263 chr7:139472106-139472117 chr7:139472174-139472185
7	CEBPB	chr7:139471964-139472282	K562	blood:	n/a	chr7:139472246-139472263 chr7:139472106-139472117 chr7:139472174-139472185
8	JUND	chr7:139471936-139472285	HepG2	liver:	n/a	n/a
9	FOXA1	chr7:139471902-139472469	HepG2	liver:	n/a	chr7:139472190-139472205
10	FOXA2	chr7:139471953-139472338	A549	lung:	n/a	n/a
11	POLR2A	chr7:139470525-139472082	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXA2	chr7:139471870-139472457	A549	lung:	n/a	n/a
13	CEBPB	chr7:139471895-139472207	HepG2	liver:	n/a	chr7:139472106-139472117 chr7:139472174-139472185
14	CEBPB	chr7:139471933-139472292	HepG2	liver:	n/a	chr7:139472246-139472263 chr7:139472106-139472117 chr7:139472174-139472185
15	CEBPB	chr7:139471924-139472425	HepG2	liver:	n/a	chr7:139472246-139472263 chr7:139472106-139472117 chr7:139472174-139472185
16	FOS	chr7:139471979-139472256	MCF10A-Er-Src	breast:	n/a	n/a
17	JUND	chr7:139470577-139472436	SK-N-SH	brain:	n/a	chr7:139471278-139471287 chr7:139471277-139471286 chr7:139471277-139471287 chr7:139471276-139471287
18	FOXA2	chr7:139471957-139472292	HepG2	liver:	n/a	n/a
19	FOXM1	chr7:139470735-139472021	SK-N-SH	brain:	n/a	n/a
20	CEBPB	chr7:139470886-139472282	Hela-S3	cervix:	n/a	chr7:139472246-139472263 chr7:139472106-139472117 chr7:139471442-139471453 chr7:139471128-139471141 chr7:139471128-139471141 chr7:139472174-139472185
21	FOXA1	chr7:139471884-139472320	HepG2	liver:	n/a	chr7:139472190-139472205
22	FOXA1	chr7:139471987-139472225	T-47D	breast:	n/a	chr7:139472190-139472205
23	CEBPB	chr7:139471902-139472340	A549	lung:	n/a	chr7:139472246-139472263 chr7:139472106-139472117 chr7:139472174-139472185
24	CEBPB	chr7:139471935-139472292	IMR90	lung:	n/a	chr7:139472246-139472263 chr7:139472106-139472117 chr7:139472174-139472185

No.	Distal block	Cell Line	Cell type
1	chr7:139431507..139433751-chr7:139471496..139473162,2	MCF-7	breast:
2	chr7:139470113..139472375-chr7:139673365..139675448,2	K562	blood:
3	chr7:139468774..139474214-chr7:139474318..139478750,13	MCF-7	breast:

Variant related genes	Relation type
TBXAS1	TF binding region
ENSG00000059377	Chromatin interaction
ENSG00000064393	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10228448	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261622	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261757	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278165	0.84[AMR][1000 genomes]
rs60526073	0.89[AFR][1000 genomes]
rs6947799	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6963553	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6964028	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6972460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735621	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7455629	0.86[AFR][1000 genomes]
rs7810177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139440600-139474600	Weak transcription	Fetal Brain Male	brain
2	chr7:139446600-139475800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:139446600-139476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:139446800-139476400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:139454200-139474000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:139455000-139475000	Weak transcription	Fetal Intestine Small	intestine
7	chr7:139455200-139473400	Weak transcription	Fetal Brain Female	brain
8	chr7:139459600-139474400	Weak transcription	Fetal Intestine Large	intestine
9	chr7:139463200-139472000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:139463600-139475000	Weak transcription	Ovary	ovary
11	chr7:139465600-139475000	Enhancers	Brain Substantia Nigra	brain
12	chr7:139466600-139472200	Enhancers	Brain Anterior Caudate	brain
13	chr7:139466800-139472000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr7:139466800-139472400	Enhancers	Brain Angular Gyrus	brain
15	chr7:139467400-139472200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:139467600-139475400	Weak transcription	Aorta	Aorta
17	chr7:139467800-139472400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr7:139467800-139475000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:139468000-139475800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:139468200-139474800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:139468600-139473400	Weak transcription	Fetal Lung	lung
22	chr7:139468600-139474200	Weak transcription	K562	blood
23	chr7:139468800-139472200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr7:139468800-139474200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:139468800-139474800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:139468800-139475000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:139468800-139475000	Weak transcription	Placenta	Placenta
28	chr7:139468800-139475600	Enhancers	Primary T cells from cord blood	blood
29	chr7:139469000-139473200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:139469000-139475000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:139469000-139475400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:139469000-139475600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr7:139469200-139472000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:139469200-139472600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:139469200-139472800	Weak transcription	Thymus	Thymus
36	chr7:139469200-139473400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:139469200-139473800	Weak transcription	Fetal Kidney	kidney
38	chr7:139469200-139474800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:139469200-139474800	Weak transcription	Colonic Mucosa	Colon
40	chr7:139469200-139474800	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:139469200-139475400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:139469200-139475800	Weak transcription	Esophagus	oesophagus
43	chr7:139469200-139476200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:139469200-139476400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:139469400-139473200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:139469600-139474800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:139469600-139475200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:139469800-139475800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:139470000-139472000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:139470000-139472800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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