Variant report

Variant	rs6973052
Chromosome Location	chr7:104745157-104745158
allele	C/T
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:1)
LncRNA
region (count:1)
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	chr7:104745040-104745396	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:104745086-104745181	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:104744698-104750302	K562	blood:	n/a	n/a
4	POLR2A	chr7:104745130-104745249	ProgFib	skin:	n/a	n/a
5	POLR2A	chr7:104744986-104745166	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:104744828-104745543	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:104744846-104745289	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104740053..104743335-chr7:104744660..104749506,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-7	chr7:104743285-104745930	ENSG00000272918.1

No data

Variant related genes	Relation type
KMT2E	TF binding region
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10231782	0.94[ASN][1000 genomes]
rs10241374	0.83[ASN][1000 genomes]
rs10244764	0.87[ASN][1000 genomes]
rs10245589	0.83[AFR][1000 genomes]
rs10245676	0.82[ASN][1000 genomes]
rs10249965	0.85[ASN][1000 genomes]
rs10269027	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10279486	0.86[ASN][1000 genomes]
rs10279602	0.83[ASN][1000 genomes]
rs10280470	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10808140	0.98[ASN][1000 genomes]
rs10953466	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1143	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11520996	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11973516	0.94[ASN][1000 genomes]
rs11976329	0.97[AFR][1000 genomes]
rs12534140	0.90[ASN][1000 genomes]
rs12540007	0.95[AFR][1000 genomes]
rs12667625	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12671368	0.86[AFR][1000 genomes]
rs12705299	0.86[AFR][1000 genomes]
rs13245298	0.90[ASN][1000 genomes]
rs2237602	0.82[AFR][1000 genomes]
rs2237604	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2237605	0.93[AFR][1000 genomes]
rs2237607	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2237609	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2240455	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2240457	0.91[AFR][1000 genomes]
rs2240465	0.82[AFR][1000 genomes]
rs2299297	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299299	0.92[AFR][1000 genomes]
rs28434158	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3213676	0.94[AFR][1000 genomes]
rs4730067	0.84[ASN][1000 genomes]
rs4730068	0.94[ASN][1000 genomes]
rs4730071	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6466046	0.87[AFR][1000 genomes]
rs6944847	0.90[ASN][1000 genomes]
rs6952534	0.86[AFR][1000 genomes]
rs757958	0.88[ASN][1000 genomes]
rs7785197	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7787558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800233	0.82[ASN][1000 genomes]
rs7810119	0.87[AFR][1000 genomes]
rs875567	0.85[ASN][1000 genomes]
rs875568	0.85[ASN][1000 genomes]
rs960437	0.85[ASN][1000 genomes]
rs9641341	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs999895	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr7:104702200-104747800	Weak transcription	Stomach Mucosa	stomach
8	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
10	chr7:104704000-104745200	Weak transcription	Psoas Muscle	Psoas
11	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:104718200-104750600	Weak transcription	Fetal Brain Male	brain
14	chr7:104720600-104746200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:104721600-104749400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:104724200-104748000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:104726800-104747800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:104727800-104758200	Strong transcription	Fetal Thymus	thymus
20	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr7:104728200-104758400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:104728200-104758400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr7:104728400-104756800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:104728400-104758400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:104728400-104758400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:104728600-104756000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:104733800-104747600	Weak transcription	Esophagus	oesophagus
31	chr7:104734800-104755200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:104735000-104749400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:104737000-104756000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:104737000-104757800	Strong transcription	Adipose Nuclei	Adipose
35	chr7:104737800-104745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:104737800-104758800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:104738600-104758400	Strong transcription	Fetal Lung	lung
38	chr7:104738800-104760200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:104739000-104759200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr7:104739400-104746000	Weak transcription	Fetal Heart	heart
41	chr7:104739600-104755800	Strong transcription	HepG2	liver
42	chr7:104739800-104745200	Weak transcription	NHLF	lung
43	chr7:104739800-104755600	Strong transcription	NH-A	brain
44	chr7:104739800-104757800	Strong transcription	HSMM	muscle
45	chr7:104740000-104758400	Strong transcription	NHDF-Ad	bronchial
46	chr7:104740200-104753200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:104740200-104759000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:104740200-104759400	Strong transcription	Primary B cells from cord blood	blood
49	chr7:104740400-104745200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:104740400-104748000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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