Variant report

Variant	rs73405247
Chromosome Location	chr7:99159174-99159175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99158028-99160221	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:99159020-99159357	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:99159151-99159617	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:99158726-99159766	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:99158867-99159340	K562	blood:	n/a	n/a
6	POLR2A	chr7:99158873-99159948	GM12892	blood:	n/a	n/a
7	FOS	chr7:99159163-99159327	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99157952..99162241-chr7:99187776..99189560,3	K562	blood:
2	chr7:99158643..99160186-chr7:99424766..99426965,2	K562	blood:
3	chr7:99062283..99063920-chr7:99156956..99159441,2	K562	blood:
4	chr7:99101995..99104391-chr7:99159127..99161903,2	K562	blood:
5	chr7:99097174..99099363-chr7:99159065..99160800,2	K562	blood:
6	chr7:99102891..99105276-chr7:99159127..99161100,2	K562	blood:
7	chr7:99148330..99152549-chr7:99153303..99160203,7	MCF-7	breast:
8	chr7:99068023..99071798-chr7:99154715..99160193,6	K562	blood:
9	chr7:99158392..99160919-chr7:99272352..99275146,2	K562	blood:

No data

Variant related genes	Relation type
FAM200A	TF binding region
ENSG00000106246	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000198556	Chromatin interaction
ENSG00000106258	Chromatin interaction
ENSG00000160908	Chromatin interaction
ENSG00000196652	Chromatin interaction
ENSG00000021461	Chromatin interaction
ENSG00000248919	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10251282	0.94[ASN][1000 genomes]
rs10279308	0.89[ASN][1000 genomes]
rs1045012	0.94[ASN][1000 genomes]
rs11734	0.94[ASN][1000 genomes]
rs11972210	0.88[ASN][1000 genomes]
rs11978089	0.89[ASN][1000 genomes]
rs17161726	0.94[ASN][1000 genomes]
rs17854665	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2003499	0.89[ASN][1000 genomes]
rs2293256	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2404487	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2404488	0.94[ASN][1000 genomes]
rs28365067	0.94[ASN][1000 genomes]
rs28377312	0.94[ASN][1000 genomes]
rs28460612	0.94[ASN][1000 genomes]
rs28558950	0.94[ASN][1000 genomes]
rs28668326	0.94[ASN][1000 genomes]
rs28753399	0.94[ASN][1000 genomes]
rs34943973	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3528	0.94[ASN][1000 genomes]
rs3823813	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs41258334	0.94[ASN][1000 genomes]
rs45441991	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs45448997	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs45451992	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs45461000	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs45492501	0.88[ASN][1000 genomes]
rs45529541	0.88[ASN][1000 genomes]
rs45555335	0.88[ASN][1000 genomes]
rs45592335	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs45593341	0.88[ASN][1000 genomes]
rs55830753	0.88[ASN][1000 genomes]
rs55927283	0.88[ASN][1000 genomes]
rs55942267	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56167514	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57367781	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57830676	0.88[ASN][1000 genomes]
rs59240302	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59574285	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59672032	0.94[ASN][1000 genomes]
rs6956305	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6974831	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976017	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6977165	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73397447	0.94[ASN][1000 genomes]
rs73397481	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73397499	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73401507	0.94[ASN][1000 genomes]
rs73401510	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73401516	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73403247	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73403272	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403290	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711280	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73711293	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73711294	1.00[ASN][1000 genomes]
rs73713507	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73713531	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73713580	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794068	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805661	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806754	0.88[ASN][1000 genomes]
rs917152	0.94[ASN][1000 genomes]
rs952319	0.94[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99157400-99159400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr7:99157400-99159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:99157400-99161400	Weak transcription	Ovary	ovary
4	chr7:99157400-99177400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:99157400-99177400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:99157600-99159200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:99157600-99160000	Genic enhancers	Fetal Thymus	thymus
8	chr7:99157600-99160200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:99157600-99160800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr7:99157600-99162200	Genic enhancers	Placenta	Placenta
11	chr7:99157600-99164200	Weak transcription	Right Atrium	heart
12	chr7:99157800-99159200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
13	chr7:99157800-99159600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:99157800-99159800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:99157800-99159800	Genic enhancers	NHDF-Ad	bronchial
16	chr7:99157800-99160000	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr7:99157800-99160000	Genic enhancers	HSMM	muscle
18	chr7:99157800-99160800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:99157800-99161000	Genic enhancers	K562	blood
20	chr7:99157800-99161400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:99157800-99164800	Strong transcription	Primary T cells from cord blood	blood
22	chr7:99157800-99172200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:99157800-99172800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:99158000-99159400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:99158000-99159600	Genic enhancers	Lung	lung
26	chr7:99158000-99159800	Genic enhancers	Osteobl	bone
27	chr7:99158000-99160400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:99158000-99160600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:99158000-99160600	Transcr. at gene 5' and 3'	NHEK	skin
30	chr7:99158000-99162200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:99158000-99162600	Strong transcription	Fetal Kidney	kidney
32	chr7:99158000-99162800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:99158000-99162800	Strong transcription	Fetal Lung	lung
34	chr7:99158000-99164200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:99158000-99164400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:99158000-99164600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:99158000-99166800	Strong transcription	Fetal Stomach	stomach
38	chr7:99158200-99159200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:99158200-99159200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr7:99158200-99159200	Genic enhancers	Colon Smooth Muscle	Colon
41	chr7:99158200-99159800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:99158200-99159800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:99158200-99159800	Genic enhancers	NH-A	brain
44	chr7:99158200-99160200	Genic enhancers	Brain Inferior Temporal Lobe	brain
45	chr7:99158200-99160400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:99158200-99160400	Genic enhancers	Brain Anterior Caudate	brain
47	chr7:99158200-99160600	Genic enhancers	HepG2	liver
48	chr7:99158200-99160800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:99158200-99160800	Genic enhancers	Gastric	stomach
50	chr7:99158200-99161000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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