Variant report

Variant	rs73711216
Chromosome Location	chr7:99010958-99010959
allele	G/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	POLR2A	chr7:99010494-99011166	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:99010811-99011063	K562	blood:	n/a	n/a
3	POLR2A	chr7:99010378-99011415	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:99010440-99011380	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:99010530-99011098	K562	blood:	n/a	n/a
6	POLR2A	chr7:99010685-99011096	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:99010829-99011141	K562	blood:	n/a	n/a
8	POLR2A	chr7:99010631-99011012	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99008645..99011330-chr7:99036359..99039743,4	K562	blood:
2	chr7:99009672..99011330-chr7:99036932..99039743,2	K562	blood:
3	chr7:99010009..99013201-chr7:99032916..99037248,5	MCF-7	breast:

Variant related genes	Relation type
PDAP1	TF binding region
BUD31	TF binding region
ENSG00000106246	Chromatin interaction
ENSG00000160917	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs55645332	1.00[AMR][1000 genomes]
rs55668841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55942015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55963144	1.00[AMR][1000 genomes]
rs56072000	1.00[AMR][1000 genomes]
rs56104955	1.00[AFR][1000 genomes]
rs56144997	1.00[AMR][1000 genomes]
rs56145748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56845845	1.00[AMR][1000 genomes]
rs56992635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57467259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57482580	1.00[AMR][1000 genomes]
rs58586429	1.00[AFR][1000 genomes]
rs59346440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60206309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60466806	1.00[AMR][1000 genomes]
rs61085247	1.00[AMR][1000 genomes]
rs61283116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709647	1.00[AMR][1000 genomes]
rs73709648	1.00[AMR][1000 genomes]
rs73710443	1.00[AMR][1000 genomes]
rs73710445	0.86[AFR][1000 genomes]
rs73710452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711289	1.00[AFR][1000 genomes]
rs73711292	1.00[AMR][1000 genomes]
rs73711299	1.00[AMR][1000 genomes]
rs73711300	1.00[AMR][1000 genomes]
rs73713503	1.00[AMR][1000 genomes]
rs73713504	1.00[AMR][1000 genomes]
rs73713510	1.00[AFR][1000 genomes]
rs73713518	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99007200-99035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99007600-99015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:99007800-99012000	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr7:99007800-99024000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:99008000-99011200	Strong transcription	Colonic Mucosa	Colon
6	chr7:99008000-99011400	Strong transcription	Aorta	Aorta
7	chr7:99008000-99011600	Strong transcription	Right Ventricle	heart
8	chr7:99008000-99018400	Strong transcription	Gastric	stomach
9	chr7:99008000-99018400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr7:99008000-99019800	Weak transcription	Right Atrium	heart
11	chr7:99008000-99023400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:99008000-99023600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:99008000-99023800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr7:99008000-99023800	Strong transcription	Placenta	Placenta
15	chr7:99008000-99024000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:99008000-99024000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:99008000-99024000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:99008000-99024000	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:99008000-99024000	Strong transcription	Spleen	Spleen
20	chr7:99008000-99024200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr7:99008000-99024200	Strong transcription	Fetal Stomach	stomach
22	chr7:99008000-99026600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:99008200-99011000	Strong transcription	Rectal Smooth Muscle	rectum
24	chr7:99008200-99011200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:99008200-99011400	Strong transcription	HSMM	muscle
26	chr7:99008200-99012400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:99008200-99023400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:99008200-99023600	Strong transcription	Fetal Intestine Large	intestine
29	chr7:99008200-99023800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:99008200-99023800	Strong transcription	Fetal Brain Female	brain
31	chr7:99008200-99023800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr7:99008200-99023800	Strong transcription	Fetal Muscle Leg	muscle
33	chr7:99008200-99024000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:99008200-99024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:99008200-99024000	Strong transcription	Lung	lung
36	chr7:99008200-99024200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:99008400-99011000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:99008400-99011200	Strong transcription	Brain Hippocampus Middle	brain
39	chr7:99008400-99011400	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr7:99008400-99011400	Strong transcription	Fetal Brain Male	brain
41	chr7:99008400-99011400	Strong transcription	Fetal Intestine Small	intestine
42	chr7:99008400-99012800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:99008400-99013000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr7:99008400-99015000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr7:99008400-99015600	Strong transcription	Fetal Kidney	kidney
46	chr7:99008400-99015800	Strong transcription	Primary B cells from cord blood	blood
47	chr7:99008400-99016800	Strong transcription	Thymus	Thymus
48	chr7:99008400-99018800	Strong transcription	Fetal Lung	lung
49	chr7:99008400-99018800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr7:99008400-99019000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links