Variant report

Variant	rs236441
Chromosome Location	chr6:36726998-36726999
allele	A/G
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	CTCF	chr6:36726860-36727262	H1-hESC	embryonic stem cell:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
2	CTCF	chr6:36726983-36727268	Kidney_OC	kidney:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
3	SMC3	chr6:36726903-36727226	HepG2	liver:	n/a	chr6:36727119-36727133
4	MAZ	chr6:36726946-36727279	HepG2	liver:	n/a	n/a
5	RAD21	chr6:36726686-36727490	HCT-116	colon:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
6	CTCF	chr6:36726577-36727594	SK-N-SH	brain:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
7	CTCF	chr6:36726843-36727357	MCF-7	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
8	ZC3H11A	chr6:36726985-36727212	K562	blood:	n/a	n/a
9	CTCF	chr6:36726985-36727276	Pancreas_OC	pancreas:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
10	JUN	chr6:36726589-36727430	K562	blood:	n/a	chr6:36727155-36727165 chr6:36727155-36727165
11	CTCF	chr6:36726984-36727206	A549	lung:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
12	CTCF	chr6:36726980-36727130	NHLF	lung:	n/a	n/a
13	RAD21	chr6:36726937-36727297	A549	lung:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
14	CTCF	chr6:36726988-36727284	T-47D	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
15	RAD21	chr6:36726824-36727376	ECC-1	luminal epithelium:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
16	TBL1XR1	chr6:36726901-36727149	K562	blood:	n/a	n/a
17	SMC3	chr6:36726902-36727313	Hela-S3	cervix:	n/a	chr6:36727119-36727133
18	CTCF	chr6:36726964-36727283	GM12878	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
19	CTCF	chr6:36726991-36727290	GM10248	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
20	CTCF	chr6:36726965-36727289	Spleen_OC	spleen:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
21	FOXA1	chr6:36726837-36727195	HepG2	liver:	n/a	chr6:36727039-36727054
22	CTCF	chr6:36726920-36727070	HAc	cerebellar:	n/a	n/a
23	ARID3A	chr6:36726897-36727172	K562	blood:	n/a	n/a
24	CTCF	chr6:36726990-36727287	MCF-7	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
25	YY1	chr6:36726970-36727212	HCT-116	colon:	n/a	n/a
26	CTCF	chr6:36726940-36727230	HCM	heart:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
27	CTCF	chr6:36726987-36727273	LNCaP	prostate:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
28	RAD21	chr6:36726827-36727252	A549	lung:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
29	FOXM1	chr6:36726884-36727328	GM12878	blood:	n/a	n/a
30	MAX	chr6:36726976-36727231	K562	blood:	n/a	n/a
31	CTCF	chr6:36726995-36727272	Fibrobl	skin:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
32	FOXA1	chr6:36726877-36727223	T-47D	breast:	n/a	chr6:36727039-36727054
33	POLR2A	chr6:36726986-36727245	HUVEC	blood vessel:	n/a	n/a
34	UBTF	chr6:36726952-36727254	K562	blood:	n/a	n/a
35	CTCF	chr6:36726914-36727209	SK-N-SH_RA	brain:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
36	CTCF	chr6:36726995-36727275	MCF-7	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
37	RAD21	chr6:36726782-36727265	HepG2	liver:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
38	RAD21	chr6:36726793-36727415	A549	lung:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
39	SMC3	chr6:36726569-36727456	SK-N-SH	brain:	n/a	chr6:36727119-36727133
40	CTCF	chr6:36726947-36727334	K562	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
41	CTCF	chr6:36726986-36727268	MCF-7	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
42	CTCF	chr6:36726975-36727301	GM19238	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
43	CTCF	chr6:36726988-36727279	K562	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
44	RAD21	chr6:36726914-36727309	H1-hESC	embryonic stem cell:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
45	CTCF	chr6:36726950-36727274	HepG2	liver:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
46	CTCF	chr6:36726980-36727130	HAc	cerebellar:	n/a	n/a
47	JUND	chr6:36726981-36727254	K562	blood:	n/a	chr6:36727155-36727165 chr6:36727155-36727165
48	FOXA2	chr6:36726887-36727201	HepG2	liver:	n/a	n/a
49	RAD21	chr6:36726623-36727383	SK-N-SH	brain:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
50	CTCF	chr6:36726925-36727252	ECC-1	luminal epithelium:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134

No.	Distal block	Cell Line	Cell type
1	chr6:36582648..36583548-chr6:36726442..36727575,5	MCF-7	breast:
2	chr6:36692117..36693169-chr6:36726597..36727520,3	MCF-7	breast:
3	chr6:36717692..36718483-chr6:36726667..36727520,2	K562	blood:
4	chr6:36589397..36591575-chr6:36726645..36728482,2	MCF-7	breast:
5	chr6:36589945..36592639-chr6:36726671..36728710,2	K562	blood:
6	chr6:36726638..36727646-chr6:36738357..36739663,3	K562	blood:
7	chr6:36725564..36727264-chr6:36727766..36730682,2	K562	blood:
8	chr6:36561839..36564756-chr6:36723772..36727529,4	MCF-7	breast:
9	chr6:36726753..36730019-chr6:36730894..36734737,3	K562	blood:
10	chr6:36590930..36591805-chr6:36726654..36727603,2	MCF-7	breast:
11	chr6:36270024..36270868-chr6:36726458..36727146,2	K562	blood:
12	chr6:36726691..36727400-chr6:36985380..36986272,2	K562	blood:
13	chr6:36692374..36694188-chr6:36726056..36729043,2	MCF-7	breast:
14	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
15	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
16	chr6:36590960..36591893-chr6:36725819..36727563,13	K562	blood:
17	chr6:36599641..36600175-chr6:36726501..36727115,2	K562	blood:
18	chr6:36582725..36583617-chr6:36726492..36727186,4	K562	blood:
19	chr6:36656125..36657871-chr6:36725735..36728109,2	MCF-7	breast:
20	chr6:36670725..36674166-chr6:36726971..36730200,3	MCF-7	breast:

Variant related genes	Relation type
CPNE5	TF binding region
ENSG00000112081	Chromatin interaction
ENSG00000263894	Chromatin interaction
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs236422	0.85[ASN][1000 genomes]
rs236425	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs236427	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs236428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs236429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs236430	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs236432	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs236433	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs236444	0.89[GIH][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.90[AMR][1000 genomes]
rs763046	0.81[CHB][hapmap]
rs86707	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9380597	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv524053	chr6:36695223-36747406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs236441	MAPK14	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36709200-36727000	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:36718800-36727400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:36718800-36727400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:36719600-36727000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr6:36721400-36728600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:36721800-36733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:36722800-36727600	Enhancers	Stomach Mucosa	stomach
8	chr6:36722800-36748200	Weak transcription	Fetal Kidney	kidney
9	chr6:36723800-36727400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:36723800-36736200	Weak transcription	Right Atrium	heart
11	chr6:36724000-36728200	Weak transcription	Fetal Stomach	stomach
12	chr6:36724000-36736200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:36724200-36727200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:36724800-36727000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr6:36724800-36734400	Weak transcription	Right Ventricle	heart
16	chr6:36725000-36727400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:36725200-36727600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:36725400-36727600	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:36725600-36727600	Enhancers	GM12878-XiMat	blood
20	chr6:36725600-36727800	Enhancers	Primary B cells from cord blood	blood
21	chr6:36725600-36730000	Weak transcription	Spleen	Spleen
22	chr6:36725600-36733800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:36725800-36727400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:36725800-36728600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:36725800-36735400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:36726000-36736200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:36726200-36727000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:36726400-36727000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:36726400-36727000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr6:36726400-36727000	Enhancers	Fetal Intestine Large	intestine
31	chr6:36726400-36727000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr6:36726400-36727000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:36726400-36727000	Flanking Active TSS	K562	blood
34	chr6:36726400-36727400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:36726400-36727600	Enhancers	Colonic Mucosa	Colon
36	chr6:36726600-36727000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:36726600-36727000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:36726600-36727000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:36726600-36727000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:36726600-36727000	Enhancers	Fetal Heart	heart
41	chr6:36726600-36727000	Enhancers	Fetal Intestine Small	intestine
42	chr6:36726600-36727000	Enhancers	Fetal Muscle Leg	muscle
43	chr6:36726600-36727000	Flanking Active TSS	Placenta	Placenta
44	chr6:36726600-36727000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:36726600-36727000	Enhancers	Rectal Smooth Muscle	rectum
46	chr6:36726600-36727000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:36726600-36727000	Enhancers	A549	lung
48	chr6:36726600-36727000	Enhancers	HSMMtube	muscle
49	chr6:36726600-36727000	Enhancers	NHEK	skin
50	chr6:36726600-36727200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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