Variant report

Variant	rs35928059
Chromosome Location	chr1:196620471-196620472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:196620468-196620471	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196620428-196620478	NHBE	bronchial:	n/a
2	chr1:196620428-196620478	CMK	blood:	n/a
3	chr1:196620428-196620478	GM19239	blood:	n/a
4	chr1:196620428-196620478	ProgFib	skin:	n/a
5	chr1:196620428-196620478	ovcar-3	ovarian:	n/a
6	chr1:196620428-196620478	HCF	heart:	n/a
7	chr1:196620428-196620478	GM06990	blood:	n/a
8	chr1:196620428-196620478	MCF10A-Er-Src	breast:	n/a
9	chr1:196620428-196620478	PANC-1	pancreas:	n/a
10	chr1:196620428-196620478	HepG2	liver:	n/a
11	chr1:196620428-196620478	T-47D	breast:	n/a
12	chr1:196620428-196620478	HIPEpiC	eye:	n/a
13	chr1:196620428-196620478	SKMC	muscle:	n/a
14	chr1:196620428-196620478	HRCEpiC	kidney:	n/a
15	chr1:196620428-196620478	A549	lung:	n/a
16	chr1:196620428-196620478	Hepatocyte	liver:	n/a
17	chr1:196620428-196620478	SAEC	small airway:	n/a
18	chr1:196620428-196620478	HCM	heart:	n/a
19	chr1:196620428-196620478	NH-A	brain:	n/a
20	chr1:196620428-196620478	LNCaP	prostate:	n/a
21	chr1:196620428-196620478	NT2-D1	testis:	n/a
22	chr1:196620428-196620478	AG09309	skin:	n/a
23	chr1:196620428-196620478	AoSMC	blood vessel:	n/a
24	chr1:196620428-196620478	MCF-7	breast:	n/a
25	chr1:196620428-196620478	HRPEpiC	eye:	n/a
26	chr1:196620428-196620478	SK-N-SH	brain:	n/a
27	chr1:196620428-196620478	HL-60	blood:	n/a
28	chr1:196620428-196620478	NB4	blood:	n/a
29	chr1:196620428-196620478	H1-hESC	embryonic stem cell:	embryo
30	chr1:196620428-196620478	HMEC	breast:	n/a
31	chr1:196620428-196620478	ECC-1	luminal epithelium:	n/a
32	chr1:196620428-196620478	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:196620428-196620478	HEEpiC	esophagus:	n/a
34	chr1:196620428-196620478	AG04450	lung:	fetal
35	chr1:196620428-196620478	IMR90	lung:	fetal
36	chr1:196620428-196620478	AG04449	skin:	fetal
37	chr1:196620428-196620478	HUVEC	blood vessel:	n/a
38	chr1:196620428-196620478	BE2_C	brain:	n/a
39	chr1:196620428-196620478	HNPCEpiC	eye:	n/a
40	chr1:196620428-196620478	PrEC	prostate:	n/a
41	chr1:196620428-196620478	GM12878	blood:	n/a
42	chr1:196620428-196620478	Caco-2	colon:	n/a
43	chr1:196620428-196620478	SK-N-SH_RA	brain:	n/a
44	chr1:196620428-196620478	GM12891	blood:	n/a
45	chr1:196620428-196620478	AG09319	gingival:	n/a
46	chr1:196620428-196620478	Jurkat	blood:	n/a
47	chr1:196620428-196620478	AG10803	skin:	n/a
48	chr1:196620428-196620478	HEK293	kidney:	embryo
49	chr1:196620428-196620478	RPTEC	kidney:	n/a
50	chr1:196620428-196620478	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196618602..196620905-chr1:196624002..196626095,2	K562	blood:

No data

Variant related genes	Relation type
CFH	TF binding region
CFH	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61819887	1.00[AFR][1000 genomes]
rs61820754	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61820755	1.00[AFR][1000 genomes]
rs72734340	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription 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	4 gene(s)	inside rSNPs	diseases
8	nsv872958	chr1:196615838-196645117	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv872959	chr1:196619720-196660261	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619000-196621400	Active TSS	Hela-S3	cervix
2	chr1:196619200-196621000	Flanking Active TSS	Dnd41	blood
3	chr1:196619400-196621400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr1:196619600-196620600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:196619600-196620800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:196619800-196620600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:196619800-196620600	Weak transcription	Psoas Muscle	Psoas
8	chr1:196619800-196620600	Enhancers	HSMMtube	muscle
9	chr1:196619800-196620800	Weak transcription	Fetal Thymus	thymus
10	chr1:196619800-196621200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:196619800-196623800	Active TSS	K562	blood
12	chr1:196619800-196625000	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:196620000-196620600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:196620000-196621000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:196620000-196623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:196620200-196620600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:196620200-196620600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:196620200-196620600	Enhancers	NH-A	brain
19	chr1:196620200-196620600	Enhancers	Osteobl	bone
20	chr1:196620200-196621000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:196620200-196621200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:196620400-196620600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:196620400-196620600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:196620400-196620600	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:196620400-196620600	Enhancers	Ovary	ovary
26	chr1:196620400-196620600	Flanking Active TSS	HSMM	muscle
27	chr1:196620400-196620800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:196620400-196620800	Enhancers	Primary T cells from cord blood	blood
29	chr1:196620400-196620800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:196620400-196620800	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:196620400-196621000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr1:196620400-196621000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:196620400-196623800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:196620400-196623800	Active TSS	NHDF-Ad	bronchial
35	chr1:196620400-196626000	Active TSS	Liver	Liver

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